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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

tom 50

nr 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.

Ograniczanie wyników

1 Journal of Applied Genetics

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.

1 2009

Wyniki wyszukiwania

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