A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke
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چکیده
منابع مشابه
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
BACKGROUND Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes. METHODS Clinical examination included visual acuity test, funduscopy and electroretinography. Genetic analysis included homozygosity mapping and whole exome sequencin...
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Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study w...
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D Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, W Van den Akker, S Kant, W B Dobyns, B Cormand, S Currier, B Hamel, B Talim, H Topaloglu, H G Brunner . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
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Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with substantial morbidity and mortality. Genetic variants play important roles in the pathogenesis of AF. However, AF is a genetically heterogeneous disorder, and the genetic determinants in most patients with AF remain to be identified. In this study, the entire coding region of the connexin40 gene, encoding t...
متن کاملA cystic fibrosis patient homozygous for the nonsense mutation R553X.
A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing. This patient, the only one described to date who is homozygous for this stop codon in exon 11 of the CFTR gene, is moderately severely affected. Clinical and molecular findings are presented.
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2020
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-020-10081-5