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

• Authors: A. Jamsheer , M. Wisniewska , A. Szpak , G. Bugaj , M.R. Krawczynski , B. Budny , A. Wawrocka , A. Latos-Bielenska
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

CONGENITAL MALFORMATION; CONNEXIN 43; DYSPLASIA; MISSENSE MUTATION

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2009
• Volume: 50
• Issue: 3
• Pages: 297-299

Contributors

author

A. Jamsheer

author

M. Wisniewska

author

A. Szpak

author

G. Bugaj

author

M.R. Krawczynski

author

B. Budny

author

A. Wawrocka

author

A. Latos-Bielenska

• Document Type: ARTICLE
• Publication order reference: A. Jamsheer, Chair and Department of Medical Genetics, Grunwaldzka 55, 60-352 Poznan, Poland