882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
نویسندگان
چکیده
منابع مشابه
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
O culodentodigital syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression. In addition, a high rate of de novo mutations is observed. Facially, affected patients exhibit a long, narrow nose with hypoplastic ala...
متن کاملNovel mutations in GJA1 cause oculodentodigital syndrome.
Oculodentodigital syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by developmental abnormalities of the face, eyes, teeth, and limbs. The most common clinical findings include a long, narrow nose, short palpebral fissures, type III syndactyly, and dental abnormalities including generalized microdontia and enamel hypoplasia. Recently, it has been shown that mu...
متن کاملExome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. The genetic defect underlying KHLS remained undetermined. By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which co...
متن کاملOculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?
A family is described with type III syndactyly and facies resembling the oculodentodigital dysplasia facial phenotype in the absence of any of the other characteristic findings of the latter condition. The relationship between type III syndactyly and oculodentodigital dysplasia is discussed.
متن کاملA novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disorder mainly affecting the development of the face, eyes, dentition, limbs, hair and heart. GJA1 (the gap junction protein α-1) has been determined to be a causative gene of ODDD, mapped to chromosome 6q22-24 identified as the connexin 43 gene (Cx43). We found a novel GJA1 mutation (W25C) as the possible causative gene...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.02.908