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A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia

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Jamsheer A., Wisniewska M., Szpak A., Bugaj G., Krawczynski M. R., Budny B., Wawrocka A., Latos-Bielenska A.

Journal of Applied Genetics

2009

vol. 50

issue 3

297-299

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.C31A 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.

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1 Journal of Applied Genetics

1 2009

1 Budny B.

1 Bugaj G.

1 Jamsheer A.

1 Krawczynski M. R.

1 Latos-Bielenska A.

1 Szpak A.

1 Wawrocka A.

1 Wisniewska M.

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A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia