A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
نویسندگان
چکیده
Introduction Oculodentodigital dysplasia (ODDD) is an autosomal dominant syndrome that presents with craniofacial and limb dysmorphisms caused by mutations in the GJA1 gene, which codes for connexin 43 (Cx43), a gap junction protein important in cell-to-cell communication. We present for the first time a family with ODDD, progressive cardiac conduction system disease, and dilated cardiomyopathy.
منابع مشابه
Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
Oculodentodigital dysplasia (ODDD) [MIM 164200] is a rare disorder caused by mutations in the gap junction alpha 1 (GJA1) gene encoding for connexin 43 (Cx43). Typical signs include type III syndactyly, microphtalmia, microdontia, and neurological disturbances. We report a 59-year-old man having clinical symptoms and signs suggestive of ODDD, with some rarely reported features, that is the pres...
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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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متن کاملA novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
OBJECTIVES To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family. METHODS Twelve members of a 3-generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. We defined ODDD on the basis of clinical characteristics described i...
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عنوان ژورنال:
دوره 2 شماره
صفحات -
تاریخ انتشار 2016