Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss
نویسندگان
چکیده
منابع مشابه
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
BACKGROUND Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations in the genes COL2A1, COL11A1 and COL11A2 that encode the fibrillar collagens types II and XI present in cartilage and vitreous. Rare recessive forms of Stickler syndrome exist that are due to mutations in genes encoding type IX collagen (COL9A1 type 4 Stickler syndrome and COL9A2 type 5 Stickler sy...
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چکیده ندارد.
Clinical features of type 2 Stickler syndrome.
T he Stickler syndromes (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment. The majority of patients and pedigrees exhibit the type 1 or ‘‘membranous’’ vitreous phenotype 11 and harbour mutations in the gene for type II collagen (COL2A1...
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DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
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Introduction: Pseudoexfoliation syndrome (PXS) occurs due to the deposition of extracellular fibrillar materials on the anterior chamber of the eye. This syndrome has been considered to be part of a systemic disease with the potential involvement of the inner ear called sensoroneural hearing loss (SNHL). In this study, we aimed on evaluating SNHL within PXS patients in Iran to compare them wi...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1354