• Sanger sequencing was used to analyze all coding and adjacent regions of the COL2A1 and COL11A1 genes. (molvis.org)
  • Whole exome sequencing identified a novel heterozygous variant c.1696delC (p.Gln566fs) in DEPDC5 , confirmed by Sanger sequencing. (biomedcentral.com)
  • Molecular investigations included candidate gene Sanger sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS). (ed.ac.uk)
  • Four heterozygous variants were found, including two large deletions not identified on Sanger sequencing or WES.Finally, a family of two children with learning difficulties, abnormal peripheral retinal vasculogenesis and rod-cone dystrophy were investigated. (ed.ac.uk)
  • WGS enabled molecular diagnosis in three families after prior negative Sanger sequencing of the causative gene. (ed.ac.uk)
  • Found via next generation sequencing and confirmed by Sanger sequencing. (ithanet.eu)
  • For this, we use Sanger sequencing, MLPA or ddPCR, depending on the type of variant. (rbht.nhs.uk)
  • By targeted next-generation sequencing (TGS) and Sanger sequencing, the proband was found to have a novel, pathological homozygous deletion variant c.560_568del (p.187_190del) of the gene (NM_001030311.2) that co-segregated with the disease in all affected family members. (bcm.edu)
  • We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions. (sunderland.ac.uk)
  • They should be considered if Sanger sequencing fails to detect homozygous or compound heterozygous IL7R SNVs or INDELs. (sunderland.ac.uk)
  • Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. (spandidos-publications.com)
  • The Complete Report adds variants of unknown significance, any remaining relevant variants that require Sanger-confirmation, and results from the deletion/duplication analysis, if ordered. (claritasgenomics.com)
  • The proband's diagnosis of precocious puberty instigated whole-genome sequencing of both the parents and the patient. (chromodisorder.org)
  • The 100,000 Genomes Project trialists are a group of UK researchers from various locations and who have performed a pilot study to investigate the value of whole genome sequencing in patients with an undiagnosed rare disease. (hospitalhealthcare.com)
  • The authors concluded that their study supported the case for genomic sequencing in the diagnosis of certain, specific rare diseases and hoped that these findings would enable other healthcare systems to consider genome sequencing for patients with rare diseases. (hospitalhealthcare.com)
  • Whole exome sequencing (WES), involves sequencing of coding exons comprising approximately 2% of the whole human genome, which are estimated to contain approximately 85% of pathogenic variants associated with monogenic disease [ 6 ]. (biomedcentral.com)
  • For comprehensive investigation of the genetic heterogeneity of diseases with a wide range of causative genes, such as hearing loss, and to identify novel candidate genes, WES analysis overcomes the limitations of targeted analysis and is considerably more cost-effective than whole genome sequencing (WGS) analysis. (biomedcentral.com)
  • Sequencing reads are mapped to [build GRCh38 of] the human genome. (rbht.nhs.uk)
  • Whole-genome sequencing of one of the patients revealed a large heterozygous inversion (1,882,433 bp). (uni-luebeck.de)
  • High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. (scilifelab.se)
  • Our data highlights the benefits of genome sequencing for resolving structural complexity and inferring de novo status. (ox.ac.uk)
  • We found that carrier children were more likely to carry another large CNV or rare deleterious mutation ("second-hit") elsewhere in the genome compared to their carrier parents, indicating that the deletion sensitizes the genome for a range of neurodevelopmental outcomes, and the ultimate phenotype is determined by variants in the genetic background. (psu.edu)
  • As the technology evolves and test costs decline, whole genome sequencing (WGS), which can assess genetic sequences of nuclear and mitochondrial DNA and copy number variants (CNVs), or whole exome sequencing (WES), which can assess genetic sequences of the coding region of nuclear genes, but usually does not cover mitochondrial DNA and does not consistently identify CNVs, in combination with CMA, may become first-line testing for these conditions. (arupconsult.com)
  • The precise delineation of breakpoints by whole-genome sequencing enables the construction of local genomic architecture and facilitates the prediction of the molecular determinants of the patient's phenotype. (biomedcentral.com)
  • To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource - Rare Diseases Study. (biomedcentral.com)
  • Genetic analyses of larger cohorts using gene panels, exome sequencing (ES), or genome sequencing (GS) have further defined the frequency of individuals with deleterious variants in PAH risk genes and have identified novel candidate risk genes. (biomedcentral.com)
  • This meta-analysis aims to compare the diagnostic and clinical utility of whole-exome sequencing (WES) versus whole-genome sequencing (WGS) in pediatric and adult patients with rare diseases across diverse populations. (cdc.gov)
  • Screening of KRT12 revealed a novel heterozygous insertion/deletion variant in exon 6, c.1288_1293delinsAGCCCT (p. (molvis.org)
  • Glu566fs) and a fragment deletion of exon 2-3 deletions in CLCNKB gene. (biomedcentral.com)
  • The deletion of a nucleotide 'C' in exon 3 of the α2-globin gene causes a frameshift resulting in a premature termination codon (TGA) at codon 132. (ithanet.eu)
  • Heterozygous, maternally inherited STX16 or GNAS deletions leading to isolated loss-of-methylation (LOM) at exon A/B alone or at all maternal DMRs are the cause of autosomal dominant PHP1B (AD-PHP1B). (uni-luebeck.de)
  • In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. (scilifelab.se)
  • Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. (sunderland.ac.uk)
  • We found heterozygous single- or multi-exon deletions in IL7R, a known disease gene for autosomal recessive T-B+NK+ SCID, in four families (seven patients). (sunderland.ac.uk)
  • We show that heterozygous IL7R exon deletions are common in T-B+NK+ SCID and are detectable by WES. (sunderland.ac.uk)
  • All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
  • 7] Of the 33 unique mutations, 23 were novel sequence variations not previously reported, and all changes found in exon 13 led to null alleles as nonsense mutations or small deletions. (medscape.com)
  • As deletions or duplications >5 base pairs are not always detected by this assay, a companion deletion/duplication analysis with up to single exon resolution is available ( Test Code C0573 ). (claritasgenomics.com)
  • Accession C0005 Systematic name Allele 1: g.18158delC, c.392delC, p.P79fsX122 Original code case 2 Description Allele 1: deletion in the exon 3 leading to a premature Description stop codon in the TSP TYPE-1 1 domain Description Allele 2: Not identified Date 27-May-2002 (Rel. (lu.se)
  • Accession C0010 Systematic name Allele 1 and 2: g.40140delG, c.977delG, p.Q274fsX319 Original code proband - family 1 Description Allele 1 and 2: deletion in the exon 7 leading to a Description premature stop codon Date 28-May-2002 (Rel. (lu.se)
  • Although the potential pathogenicity of this variant is unknown, it is the first variant affecting the head domain of K3 to be reported in an individual with MECD and suggests that disease-causing variants associated with MECD may not be restricted to primary sequence alterations of either the helix-initiation or helix-termination motifs of K3 and K12. (molvis.org)
  • For the genomic sequencing, the researchers investigated both coding and non-coding regions of DNA to identify 'novel diagnostic variants' in genes that had not been previously described in the literature. (hospitalhealthcare.com)
  • To detect pathogenic variants in multiple deafness genes, in addition to novel candidate genes associated with hearing loss, whole exome sequencing (WES), followed by analysis prioritizing genes categorized in four tiers, were applied. (biomedcentral.com)
  • In this study, we sought to explore the wide spectrum of genetic heterogeneity associated with hearing loss in Japan, and to discover novel candidate genes associated with hearing loss, using trio analysis of probands and their parents, and four originally developed gene groups ranked by priority (tiers), as a new strategy to filter candidate variants. (biomedcentral.com)
  • Two probands carried bi-allelic LRP5 variants, both presenting with bilateral retinal folds. (ed.ac.uk)
  • Subsequent bone density measurement, identified osteoporosis in one proband.Four families had heterozygous KIF11 variants. (ed.ac.uk)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • This approach allowed us to identify additional sequence variants occurring in the remaining allele of the deletion. (pasteur.fr)
  • Our main goal was to compare the rate of sequence variants in remaining alleles of deleted regions between probands and the deletion-transmitting parents. (pasteur.fr)
  • The cumulative burden of sequence variants (n = 68) in pooled proband sequences was higher than the burden in pooled sequences from the deletion-transmitting parents (n = 41, X2 = 6.69, p = 0.0097). (pasteur.fr)
  • After filtering for those variants predicted to be most deleterious, we observed 21 of such variants in probands versus 8 in their deletion-transmitting parents (X2 = 5.82, p = 0.016). (pasteur.fr)
  • If two CF-causing variants are not detected, sequencing of the entire CFTR gene and CNV analysis is available as part of the inherited respiratory condition (Respigene) NGS panel. (rbht.nhs.uk)
  • Patients presenting with DD are often referred for diagnostic testing with chromosomal microarrays (CMA) to identify large copy-number variants (CNVs) and/or with single gene, gene-panel, or exome sequencing (ES) to identify single nucleotide variants, small insertions/deletions, and CNVs. (medrxiv.org)
  • We applied InDelible to 13,438 probands with severe DD recruited as part of the Deciphering Developmental Disorders (DDD) study and discovered 64 rare, damaging variants in genes previously associated with DD missed by standard SNV, InDel or CNV discovery approaches. (medrxiv.org)
  • Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. (scilifelab.se)
  • Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. (scilifelab.se)
  • Of a total of 12 undiagnosed patients with T-B+NK+ SCID, we analyzed eight probands by WES, using GATK to detect single nucleotide variants (SNVs) and small insertions and deletions (INDELs) and ExomeDepth to detect CNVs. (sunderland.ac.uk)
  • Our long-term goal is to understand how specific combinations of second-hit variants, in concert with the 16p12.1 deletion, lead to distinct clinical outcomes. (psu.edu)
  • De novo likely gene-disruptive/protein-truncating variants in the MBD5 gene have been identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (O'Roak et al. (sfari.org)
  • 2017). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al. (sfari.org)
  • A de novo loss-of-function variant and several missense variants in the MBD5 gene were reported in ASD proband from the SPARK cohort in Zhou et al. (sfari.org)
  • To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. (cdc.gov)
  • To determine the importance of rare variants for different epilepsy types, we analyzed a whole-exome sequencing cohort of 9,170 epilepsy-affected individuals and 8,436 control individuals. (cdc.gov)
  • Variants from exome sequencing in affected individuals were filtered in a multi-step process, prior to undergoing clinical classification using current ACMG/AMP guidelines. (cdc.gov)
  • To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. (cdc.gov)
  • Furthermore, trio exome sequencing did not reveal any other deleterious variant that could explain her phenotype. (nih.gov)
  • Objective:To summarize the clinical phenotype and CUX2 gene variation characteristics of developmental epileptic encephalopathy type 67 confirmed by whole exome sequencing. (bvsalud.org)
  • Here, we describe the identification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations. (ncl.ac.uk)
  • The confirmation of the pathogenicity of these de novo SLC25A4 mutations highlights a third distinct clinical phenotype associated with mutation of this gene and demonstrates that early-onset mitochondria' disease can be caused by recurrent de novo mutations, which has significant implications for the application and analysis of whole-exome sequencing data in mitochondrial disease. (ncl.ac.uk)
  • Although not typically included in guidelines or billing algorithms, whole exome sequencing (WES) is gaining traction as a test for DD/ID/ASD. (arupconsult.com)
  • We performed whole exome sequencing on 200 early-onset AF patients. (cdc.gov)
  • These models were trained using a genetic Whole Exome Sequencing (WES) dataset and clinical covariates (age and gender) formulated from a 5-fold stratified cross-validation computational strategy to randomly split the dataset to overcome model instability. (cdc.gov)
  • Analytical sensitivity for insertions and deletions may be lower in intronic poly-mononucleotide repeat regions. (rbht.nhs.uk)
  • The diagnosis of OFD1 is established in a female proband with suggestive findings and a heterozygous OFD1 pathogenic variant identified by molecular genetic testing . (nih.gov)
  • Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. (ncl.ac.uk)
  • In three families (five patients), these deletions coexisted with a heterozygous splice site or nonsense mutation elsewhere in the same gene, consistent with compound heterozygosity. (sunderland.ac.uk)
  • In our cohort, about a quarter of T-B+NK+ SCID patients (26%) had such compound heterozygous IL7R deletions. (sunderland.ac.uk)
  • 7] In 36 cases with an identifiable causative mutation, 20 patients were heterozygous for the mutation, whereas 9 were homozygous, 6 were compound heterozygous, and 1 proband was pseudohomozygous. (medscape.com)
  • The single nucleotide variant-deletion co-occurrence was observed in 13.4% of probands, compared with 8.1% of parents. (pasteur.fr)
  • Haplotype analysis confirmed paternity of the second proband, indicating that the variant arose de novo. (molvis.org)
  • Furthermore, 10% of the probands had a variant of unknown significance in genes determined by geneticists at the recruiting site. (hospitalhealthcare.com)
  • To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, we sequenced 550 genes in 149 individuals with ASD and their deletion-transmitting parents. (pasteur.fr)
  • Sequencing data is generated on many genes, with comprehensive bioinformatic analysis including copy number variant analysis, clinical interpretation and variant confirmation, only reported on genes of clinical relevance to the indication requested. (rbht.nhs.uk)
  • If a pathogenic or likely pathogenic variant is detected in a family, affected and unaffected relatives of the proband may wish to be tested for the variant. (rbht.nhs.uk)
  • Therefore, the identification of a novel, homozygous deletion variant c.560_568del (p.187_190del) in an IRD familial cohort descent provides insights into the molecular pathogenesis of IRD and facilitates genetic counseling and disease prediction. (bcm.edu)
  • Our report describes the first example of a paternally inherited NLGN4X microdeletion as the genetic etiology of ASD in a female proband, and the psychiatric phenotypes in the father. (nih.gov)
  • The 100,000 Genomes Project , which involves whole genomic sequencing, has led to a new diagnosis in 25% of patients with a rare genetic disease. (hospitalhealthcare.com)
  • The pilot enrolled 4660 participants which included 2183 probands (i.e., the first individual to receive any genetic counselling or testing) with a median age at recruitment of 35 years, of whom, 52% were male and 2477 family members. (hospitalhealthcare.com)
  • Renal biopsy showed focal segmental glomerulosclerosis (FSGS) with juxtaglomerular apparatus cell hyperplasia, and genetic testing revealed a point deletion of c.1696delG (p. (biomedcentral.com)
  • Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen disease, is an autosomal dominant genetic condition caused by a mutation in or a deletion of the NF1 gene. (medscape.com)
  • We study the 520- kbp deletion on chromosome 16p12.1 as a paradigm to dissect the genetic basis of complex disorders. (psu.edu)
  • The investigators identified 33 uniquely different mutations of a total 42 genetic mutations: 19 missense mutations, 8 nonsense mutations, 4 small deletions, and 2 splice site mutations. (medscape.com)
  • In summary, our studies indicate that MLPA, with a focus on accepted medical genetic conditions, may be an inexpensive method for detection of microdeletions and microduplications in ASD patients for purposes of genetic counselling if MLPA-identified deletions are validated by additional methods. (biomedcentral.com)
  • Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic neoplastic disorder caused by germline mutation or deletion of the VHL gene, characterized by the tendency to develop multisystem benign or malignant tumors. (biomedcentral.com)
  • We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). (sunderland.ac.uk)
  • The loss of the expression of the maternal allele of the UBE3A gene is typically associated with the four following mechanisms: Deletion at the 15q11.2-q13 locus, UBE3A functional loss variation, presence of paternal parthenogenetic double chromosome or genomic imprinting defect ( 4 ). (spandidos-publications.com)
  • They identified a genomic deletion containing the gene encoding for the oxytocin receptor ( OXTR ) in an autistic male individual and in his mother, who probably experienced obsessive-compulsive disorder (OCD). (biomedcentral.com)
  • There are deletion-positive ASD probands with a less severe phenotype than deletion-negative ASD siblings underscoring the significant phenotypic heterogeneity. (bmj.com)
  • [ 1 ] Patients with NF1 who have a whole NF1 gene deletion (about 4-5% of individuals with NF1) appear to develop a more severe phenotype than do patients with a partial gene deletion. (medscape.com)
  • GPC3 mutation/deletion and Simpson-Golbai-Behmel syndrome (SGBS). (chromodisorder.org)
  • In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. (nih.gov)
  • This deletion is predicted to lead to a frameshift mutation, p.Asp286ThrfsX62 causing a premature stop codon. (bmj.com)
  • The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. (bmj.com)
  • Targeted next-generation sequencing revealed that FH mutation and loss of the second allele were completely identical between blood and tumor samples, suggesting that FH mutation plays a direct role in FH -deficient RCC. (biomedcentral.com)
  • In this study, we analyzed three affected individuals, the female proband and her two sons. (uni-luebeck.de)
  • DNA was extracted from peripheral blood, and the coding region of NYX along with parts of the 5′UTR and 3′UTR and intronic regions covering the splice sites were PCR amplified and sequenced. (bmj.com)
  • The novel mutations comprise 15 nonsense, 22 insertion/deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. (ox.ac.uk)
  • Chromosomal microarray analysis identified a paternally inherited, 445 Kb deletion on Xp22.3 that includes the entire NLGN4X in a 2.5 year old female (46,XX) with congenital hypotonia, strabismus, ASD, and increased aggressive behavioral issues. (nih.gov)
  • Mutations that have been observed in the NF1 gene include stop mutations, amino acid substitutions, insertions, deletions (partial or whole), and gross chromosomal rearrangements. (medscape.com)
  • Phenotypic Spectrum Associated with De Novo and Inherited Deletions and Duplications at 16p11.2 in Individuals Ascertained for Diagnosis of Autism Spectrum Disorder. (bmj.com)
  • Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
  • In order to further clarify the diagnosis, all the suspected genes in her sister and in their parents were sequenced. (spandidos-publications.com)
  • Proband 1 (female with ASD, de novo deletion) is not dysmorphic. (bmj.com)
  • Proband 2 (male with autism, de novo deletion) and proband 3 and his brother (males with autism, inherited deletions) are dysmorphic, but the two probands do not resemble one another. (bmj.com)
  • Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. (scilifelab.se)
  • The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. (spandidos-publications.com)
  • We report five autistic probands identified by microarray analysis with copy number variation (CNV) of 16p11.2 (three deletions, two duplications). (bmj.com)
  • In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. (ox.ac.uk)
  • Gross indels were not found in COL2A1 or COL11A1 in any of the probands. (molvis.org)
  • The multiplex ligation‑dependent probe amplification project of the Angel/chubby and copy number variation (CNV) sequencing were assessed concomitantly to identify the pathogenic genes responsible for the development of AS. (spandidos-publications.com)
  • In this study, 12 Chinese probands lacked obvious systemic phenotypes. (molvis.org)
  • In the previous funding period, we analyzed the genomes and quantitative phenotypes of 150 families with the 16p12.1 deletion, and tested individual as well as 214 pairwise interactions of homologs of 16p12.1 genes in Drosophila melanogaster and Xenopus laevis models. (psu.edu)
  • Multiplex ligation-dependent amplification analysis was used for the detection of intragenic deletions. (nih.gov)
  • Although SGBS is mainly a disorder caused by point mutations, this report shows that deletions of Xq26.3 affecting the GPC3 gene also may cause this condition. (chromodisorder.org)
  • Findings from experiments conducted so far suggest that the specific defects could be small inframe deletions, inframe additions, or point mutations. (medscape.com)
  • Probands with CSNB from three large Flemish families underwent ophthalmological examination. (bmj.com)
  • All our panels use targeted capture and sequencing is undertaken on Illumina MiSeq or NextSeq550 automated sequencers. (rbht.nhs.uk)
  • Next-generation sequencing panels - 42-84 calendar days, depending on the number of genes analysed. (rbht.nhs.uk)
  • Next-generation sequencing assays sequence genes associated with a range of inherited cardiac and respiratory conditions. (rbht.nhs.uk)
  • The nature of this epigenetic dysregulation is unknown but, if proved to be true, might explain the failure to identify sequence alterations in a host of candidate genes. (biomedcentral.com)
  • Our studies also identify some limitations of MLPA, where single base changes in probe binding sequences alter results. (biomedcentral.com)
  • We also describe a deletion-positive 26-month old female who has developmental delay (DD) and autistic features. (bmj.com)
  • Consequently, we have developed the novel tool 'InDelible', which interrogates short-read sequencing data for split-read clusters characteristic of SV breakpoints. (medrxiv.org)
  • Deletions ranged between 248 and 482 kb in size and all distal breakpoints clustered within a complex 144 kb palindrome situated 75 kb upstream of SRRM2. (ox.ac.uk)
  • Slit-lamp examination of the first proband demonstrated bilateral, diffusely distributed, clear epithelial microcysts, consistent with MECD. (molvis.org)
  • The second proband demonstrated bilateral, diffusely distributed epithelial opacities that appeared gray-white on direct illumination and translucent on retroillumination. (molvis.org)
  • Results present the 240-kb deletion (ChrX: 132,624,991-132,865,393) including the GPC3 gene in the patient but not in the parents. (chromodisorder.org)
  • Results:The proband was a 6 years and 4 months old girl. (bvsalud.org)
  • Proband 4 (dysmorphic autistic male, de novo duplication) had a congenital diaphragmatic hernia. (bmj.com)
  • The involvement of this gene was suggested by its deletion in an autistic patient. (biomedcentral.com)
  • The subsequent analysis of a group of unrelated autistic subjects did not show an OXTR deletion, but rather hypermethylation of the gene promoter, with a reduced mRNA expression. (biomedcentral.com)
  • One-hundred-and-sixty-one studies across 31 countries/regions were eligible, featuring 50,417 probands of diverse populations. (cdc.gov)
  • This entry is for the Trio which includes testing of the Proband and biological parents. (claritasgenomics.com)
  • introduces a novel de-novo case featuring a 240 kb gene deletion, which includes a part of GPC3 and manifests endocrinological complications of precocious puberty and advanced bone aging not seen in previous SGBS patients. (chromodisorder.org)