Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
نویسندگان
چکیده
منابع مشابه
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...
متن کاملAlternative 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...
متن کاملONLINE MUTATION REPORT 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...
متن کامل: metadiscourse in introduction sections of applied linguistics and physics research articles: exploring variation in frequency and type
abstract in written mode of language, metadiscourse markers are used commonly to help writers in general and academic writers in particular to produce coherent and professional texts. the purpose of the present study was to compare introduction sections of applied linguistics and physics articles regarding their use of interactive and interactional metadiscourse markers based on the model pro...
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ژورنال
عنوان ژورنال: Genes
سال: 2020
ISSN: 2073-4425
DOI: 10.3390/genes11121513