Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and...
... epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1, one of the four ...
Absence of germline p16 INK4a alterations in p53 wild type Li-Fraumeni syndrome families | Journal of Medical Genetics
1994) Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368:753-756. ... 1994) Deletion of p16 and p15 genes in brain tumors. Cancer Res 54:6353-6358. ... 1999) Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li- Fraumeni syndrome. Br J Cancer 80:9-10. ... and a 1 bp deletion, and one subject with a polymorphism (Arg72Pro) and a 2 bp deletion. Both the p16INK4a andp53 mutation ...
Identification of a new DMD gene deletion by ectopic transcript analysis. | Journal of Medical Genetics
The detailed genetic analysis of the Duchenne/Becker muscular dystrophy gene is hindered by the large number of exons involved ... sequences from complex genes and illustrate its potential by the identification of a hitherto undescribed single exon deletion. ...
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses | Journal of...
Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in ... Other hotspot CNVs included a deletion at 16p13.11 and a deletion of the distal 1p36 region, containing the candidate gene ... pink a hub gene, green an epilepsy-associated gene not found within a CNV and white are genes added by Ingenuity Pathway ... Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short ...
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature |...
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am J Med Genet A 2011;155A ... all 10 mutations have been identified after the introduction of PURA as an ID gene in diagnostic gene panels at the end of 2014 ... E) Deletion (red) caused by mutation p.(Met1?) (class E), which disrupts the start codon. The protein is likely expressed from ... Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A 2012;158A:1891-6.doi:10.1002/ ...
FOXP1-related intellectual disability syndrome: a recognisable entity | Journal of Medical Genetics
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes. Am J ... A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and ... Meanwhile, over 700 genes have been identified in both isolated ID and ID-associated disorders, and several genes have been ... Subgroup analysis, comparing patients with 3p deletions and monogenic FOXP1 defects, and patients with FOXP1 deletions or ...
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome | Journal of Medical Genetics
Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene. ... Background: Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood ... Heterozygous germline loss-of-function mutations of the genes encoding the crucial components of this MMR system (MLH1, MSH2, ... In humans, mismatches and small insertion-deletion loops (IDLs) are detected by one of two heterodimers, MSH2•MSH6 (MutSα) or ...
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS...
All deletions analysed encompass the gene COL4A5. The deletion present in family 1 extends into the first two exons of COL4A6. ... These deletions were compared to that found in a fifth patient diagnosed with ATS-DL contiguous gene syndrome, whose deletion ... We have previously reported that family 1 has a COL4A5 gene deletion10 extending beyond the gene towards the telomere12 (AMME, ... Contiguous gene syndromes are phenotypically complex disorders produced by the deletion of multiple adjacent genes. The ...
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome | Journal of Medical Genetics
1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. ... SMS is considered a contiguous gene deletion syndrome1 and 95% of patients harbour a common deletion of approximately 5 Mb. ... The pattern in other SMS patients with uncommon deletions, including an SMS patient with a smaller deletion also showed an ... FISH analysis with probes for genes within the SMS region was used to determine the size of the deletion. Probes for thePMP22 ...
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic...
... of mutations in incontinentia pigmenti are the result of a deletion of exons 4-10 of the NEMO gene. This recurrent deletion ... A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia ... Exclusion of disruption or duplication of known XLMR genes in Xq28. The gene GDI1, which is known to cause X linked mental ... There are published examples where a whole gene duplication alone or a point mutation in the single copy of the gene are ...
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of...
Screening theCBP gene for larger deletions, by using different cosmid probes in FISH, showed 14/171 microdeletions. Using five ... We have previously shown that disruption of the human CREB binding protein (CREBBP orCBP) gene, either by these gross ... Analyses of the entireCBP gene by the protein truncation test showed 4/37 truncating mutations. Two point mutations, one 11 bp ... deletion, and one mutation affecting the splicing of the second exon were detected by subsequent sequencing. ...
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published...
8-42 We excluded one case of a patient with a large deletion of 6.55 MB as this involved several genes and presented with a ... The chromosome 14 imprinted locus (figure 1) has a cluster of reciprocally imprinted genes; the protein coding genes DLK1, RTL1 ... The Dlk1 and Gtl2 genes are linked and reciprocally imprinted. Genes Dev 2000;14:1997-2002. ... deletions and duplications), (iii) mutation of expressed coding genes and (iv) epigenetic error (either secondary to a genetic ...
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical...
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet2001; ... In our series of 12 simple 22q13 deletions (figs 2 and 3), the large majority of deletion breakpoints (8/12) appeared to be ... Although the incidence of the deletion is not yet established, the increasing number of 22q13 deletions that have been reported ... Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical ...
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI...
We have identified an 18 bp deletion in exon 49 of the type II procollagen gene (COL2A1) in a patient with Kniest dysplasia. ... The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI ... The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI ... The deletion is located at the very C-terminus of the helical domain and removes two of three Gly-Pro-Pro triplets at positions ...
Carrier detection through the use of abnormal deletion junction fragments in a case of haemophilia B involving complete...
... the use of abnormal deletion junction fragments in a case of haemophilia B involving complete deletion of the factor IX gene. ... the use of abnormal deletion junction fragments in a case of haemophilia B involving complete deletion of the factor IX gene. ...
Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by...
Despite the fact that deletions of the APClocus were originally used to map1 2 and identify3 4 the APC gene, most studies of ... Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by ... Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by ... A recent report11 described a quantitative PCR assay to detect submicroscopic deletions which included the entireAPC gene and ...
Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and...
Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and ... Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and ...
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital...
Background: Deletions of 11q23 are associated with mental retardation, craniofacial dysmorphism, microcephaly and short stature ... DNA sequence analyses and reporter gene assays were performed in order to identify candidate gene mutations. ... Discussion: The PLZF gene is one of five partners fused to the retinoic acid receptor α in acute promyelocytic leukaemia. We ... Results: The patient has an ∼8 Mbp de novo deletion on the paternal chromosome 11, which includes the promyelocytic leukaemia ...
Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. | Journal of Medical...
Using DNA probes in a structural study of the antithrombin III gene locus we found no evidence of gene deletion in two British ... Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. ... Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. ... These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is ...
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing...
One of the deletions (exon 6 of CACNA1A) segregated with episodic ataxia in a four generation family with eight affected ... Results: The authors identified five previously unreported large scale deletions in CACNA1A in seven families with episodic ... Standard DNA sequencing methods may miss large scale genetic rearrangements such as deletions and duplications. The authors ... Conclusions: Large scale deletions and duplications can cause CACNA1A associated channelopathies. Direct DNA sequencing alone ...
Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein | Journal of...
... region as described above showed no abnormalities but analysis ofMECP2 showed a 44 base pair deletion within exon 3 of the gene ... Finally, around 5% of patients have loss of function mutations in the UBE3Agene, a gene encoding E6-AP, a ubiquitin protein ... Overexpression of genes within the 15q11-13 region does give rise to a specific phenotype. Several subjects with a maternal ... Analysis of 15q11-13 was normal, but she was found to have a 52 base pair deletion within exon 3 of MECP2. ...
A common variant of CDKN2A (p16) predisposes to breast cancer | Journal of Medical Genetics
Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation ... arrays to interrogate a large number of genes simultaneously, and preselecting candidate genes of interest. Candidate genes for ... The CDKN2A (OMIM 600160) gene is a tumour suppressor gene that is involved in susceptibility to malignant melanoma1 and has ... Nielsen NH, Roos G, Emdin SO, Landberg G. Methylation of the p16(Ink4a) tumor suppressor gene 5′-CpG island in breast cancer. ...
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease...
... et al26 also studied whether risk of IBD is associated with a 32 bp deletion variant of the chemokine receptor CCR5 gene on ... Another candidate gene located in the same chromosomal area has recently been investigated, the human GNAI2 gene coding for G ... 14 Pokorny et al15 studied three polymorphisms located inside or near the MLH1 gene, one of the DNA mismatch repair genes ... Pokorny et al15 first reported a significant association of haplotypes of the MLH1 gene, located on chromosome 3p, with IBD. In ...
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma | Journal of Medical Genetics
... the SDHC deletion described in here is the first large gene deletion identified in a hereditary paraganglioma gene. The ... These findings, for the first time, to our knowledge, describe a large deletion in a complex II gene and confirm the role of ... end of the gene. Further sequence tagged site content mapping around exon 6 confirmed the deletion and enabled us to capture a ... the SDHC gene might be considered further for genomic deletions in familial and sporadic paragangliomas. Because the SDHC ...
Maternal gene effect in neurofibromatosis 2: fact or artefact? | Journal of Medical Genetics
Patients with missense mutations and large deletions had significantly higher ages at onset and diagnosis than patients with ... 1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59: ... 1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800. ... 1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363:515 ...
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and...
It has, therefore, been suggested that the combined deletion of PURA and NRG2 (and/or other genes within the SRO for these six ... Purα has been shown to be important in controlling gene transcription from an array of different genes. Interestingly, it has ... to a 101 kb region encompassing only three genes: PURA, C5orf53 and C5orf32. Given that the function of the latter two genes is ... Given that PURA is a single exon gene, these altered gene products would not be subject to nonsense-mediated decay. As such, ...
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in...
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet ... A deletion of two clones at 13q33.3-34 was identified and confirmed by FISH analysis. This deletion was inherited from the ... I) Patient 5 shows a deletion involving a single clone at 17q. (J) Patient 6 shows a deletion involving a single clone at 19q ... no deletion was detected in this region. However, a deletion involving a single clone at 1p36.33 was detected by array-CGH ...
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male | Journal of Medical Genetics
RTT has been ascribed to mutations of theMECP2 gene, which encodes a protein involved in transcription repression and gene ... or frameshift deletion (803delG), which involved either the methyl binding domain or the transcription repression domain of the ... For this reason, we studied theMECP2 gene in a series of male and female children whose encephalopathy was not accounted for by ... To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 ...
Retrospective natural history of thymidine kinase 2 deficiency | Journal of Medical Genetics
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006;63:1122-6. ... Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Neurology 2013;81:2051-3.doi:10.1212/01. ... New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 2006;34:177-85.doi:10.1016/j. ... Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002;59:1197-202.doi:10.1212/ ...
A human laterality disorder caused by a homozygous deleterious mutation in MMP21 | Journal of Medical Genetics
... potential of the candidate gene to induce L-R asymmetry was tested by transient suppression and CRISPR/Cas9-induced deletions. ... Most of target genes for Notch signalling (her2, her6, her9, hey1 and hes5) are statistically upregulated in splice-blocking ... The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Nature 2013;504:456-9. doi:10.1038/ ... The structure and regulation of the human and mouse matrix metalloproteinase-21 gene and protein. Biochem J 2003;372(Pt 2):503- ...