Journal of Applied Genetics 50(3), 2009, pp. 297-299
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia
A. Jamsheer, M. Wisniewska, A. Szpak, G. Bugaj, M. R. Krawczynski, B. Budny, A. Wawrocka, A. Latos-Bielenska
Abstract: Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31T resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.
Key words: connexin 43, GJA1, missense mutation, oculodentodigital syndrome, ODDS, oculodentoosseous dysplasia, ODDD, registries of congenital malformations
Correspondence: A. Jamsheer, Chair and Department of Medical Genetics, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland; e-mail: firstname.lastname@example.org
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