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J.P. Vasconcellos, R.B. Schimiti, V.P. Costa, N.C. Bressanim, F.F. Costa, I.L. Cendes, M.B. Melo; Pro59His: a novel mutation in the GJA1 gene in a Brazilian family with oculodentodigital dysplasia . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2471.
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Purpose: The oculodentodigital dysplasia (ODDD) is a syndrome characterized by malformations that involve the face, eyes, teeth, and bones. The ocular abnormalities include microphthalmos and anterior segment dysgenesis that may lead to glaucoma. Recently, structural changes in the connexin 43 (GJA1) gene have been associated with ODDD. The goal of this study is to describe a Brazilian family with ODDD, and to screen this family for mutations in the GJA1 gene. Methods: Twelve members of a three–generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. ODDD was defined based on clinical characteristics described in this syndrome: microdontia, caries, enamel hypoplasia, thin nose, and syndactyly. Direct sequencing of the GJA1 gene was performed using DNA collected from peripheral blood. A control group of 60 individuals was evaluated through restriction fragment length polymorphism (RFLP). Results: Eight members of this family were characterized as having ODDD. An autosomal dominant inheritance pattern was observed in this family. Among the 8 affected members, 2 showed chronic angle closure glaucoma, and one had primary open–angle glaucoma. A new mutation in the GJ1A gene was identified, consisting of a change from proline to histidine at codon 59. This mutation segregated through members with the ODDD phenotype. Analysis of the control group by RFLP (MvaI enzyme) did not disclose this mutation. Conclusions: A new mutation (Pro59His) in the GJA1 gene was identified in a family with ODDD syndrome.
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