• Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results. (harvard.edu)
  • Patients with 22q11.2 Deletion Syndrome (22q11.2DS) have a 25-30% risk of developing schizophrenia, and also suffer frequent hearing loss. (biorxiv.org)
  • These results reveal bottom-up neurobiological mechanisms through which peripheral hearing loss arising from the 22q11.2 deletion may promote the emergence of schizophrenia-relevant auditory brain and behavioral abnormalities, and also suggest a link between conductive hearing loss and reduced PV+ interneuron density in the auditory cortex. (biorxiv.org)
  • In the Df1 /+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. (biorxiv.org)
  • These results suggest mechanisms through which hearing loss associated with the 22q11.2 deletion may promote emergence of schizophrenia-relevant auditory brain and behavioral abnormalities and indicate that conductive hearing loss may influence PV+ interneuron density in the auditory cortex. (biorxiv.org)
  • Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
  • Al-Qattan MM, Abou Al-Shaar H. Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. (medscape.com)
  • 2003). A proportion of the deletions observed in these studies were the unbalanced products of balanced parental rearrangements (usually translocations), and reciprocal duplications have also been reported. (what-when-how.com)
  • For example, the presence in some mothers with children with Angelman's syndrome and del(15)(q11-q13) of a submicroscopic heterozygous inversion at the regions defined by flanking segmental duplications has been proposed to represent "an intermediate estate" that facilitates the formation of a deletion in an offspring (Gimelli et al. (what-when-how.com)
  • These linkage findings indicate that mutations of genes on 22q11 are likely to contribute to susceptibility to schizophrenia. (biomedcentral.com)
  • 3. Advances in genetics have identified new gene mutations in which have clarified the causes of several conditions previously thought to be "idiopathic. (frontiersin.org)
  • [ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
  • Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)
  • Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
  • Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)
  • These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
  • Subsequent studies have identified a number of genes implicated in the William's contiguous gene phenotype, and in common with many other human microdeletion syndromes, hemizygosity at one or more loci leading to the disruption of expression of dosage-sensitive genes appears to be the principal mutational mechanism underlying the clinical phenotypes. (what-when-how.com)
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
  • This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
  • Df1 /+ mice have a multi-gene deletion analogous to the chromosomal microdeletion that causes human 22q11.2DS, and like human 22q11.2DS patients exhibit high rates of hearing loss arising primarily from susceptibility to middle ear inflammation. (biorxiv.org)
  • Deletion of chromosomal locus 22q11.2 is associated with both schizophrenia and hearing loss in humans. (biorxiv.org)
  • Chromosome markers such as translocation breakpoints found in patients with abnormal phenotypes were often pivotal in identifying the chromosomal region of interest following which positional cloning methods resulted in the identification and characterization of the gene(s) of interest (Tommerup, 1993). (what-when-how.com)
  • 1988), led to the discovery of the first cryptic deletion syndromes, that is, those in which the missing material was not visible using conventional microscopy. (what-when-how.com)
  • 1997). These studies were instrumental in defining the so-called terminal deletion syndromes that are distributed throughout the genome and were found in ~5% patients with idiopathic developmental delay with or without associated congenital abnormalities (de Vries et al. (what-when-how.com)
  • Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. (biomedcentral.com)
  • Several terminal, or more correctly, subtelomeric deletions have been described following analysis of patients with normal karyotypes using chromosome-specific sub-telomere FISH probes (Knight et al. (what-when-how.com)
  • In the past ten years, improvements in massively parallel sequencing techniques have led to the development and widespread clinical use of multigene panels, which allow simultaneous testing of two to more than 150 genes. (nih.gov)
  • The methods used in multigene panels may include sequence analysis , deletion/duplication analysis , and/or other non-sequencing-based tests. (nih.gov)
  • Results for each gene on the custom multigene panel are reported to the ordering clinician, whereas the results from the remaining genes sequenced (but not requested by the clinician) are not analyzed or included in the final laboratory report. (nih.gov)
  • Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)
  • The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)
  • KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5. (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)
  • Several reports suggest that dosage changes in 22q11.2 genes could disrupt processes required for proper brain development and/or function, and contribute to increase schizophrenia susceptibility [ 11 , 12 ]. (biomedcentral.com)
  • Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)
  • A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
  • The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
  • These include genes selected by a clinician for analysis by clinical sequencing. (nih.gov)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)
  • Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes. (nih.gov)
  • Speakers and participants will describe genotype-phenotype links, the molecular mechanisms by which gene dosage results in the syndrome phenotypes, and potential for therapeutic intervention, thus providing a rich and unique learning environment. (nih.gov)
  • [ 73 , 109 ] Mirror anthropometric phenotype has been reported with deletions mainly associated with obesity and macrocephaly and duplications associated with underweight, and microcephaly. (medscape.com)
  • Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
  • Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)
  • These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
  • Results for each gene on the custom multigene panel are reported to the ordering clinician, whereas the results from the remaining genes sequenced (but not requested by the clinician) are not analyzed or included in the final laboratory report. (nih.gov)
  • Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)
  • The Heart and Soul workshop will bring together world experts on gene dosage effects in brain and cardiac development. (nih.gov)
  • [ 112 ] Once effects on global volumes are taken into account, a mirror negative gene dosage effect was observed for the insula volume. (medscape.com)
  • A, Pedigree and electropherograms of the mutated genomic sequence of exon 5 of the TBX1 gene from the affected family members and the unaffected mother. (nih.gov)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)