A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-09

AUTHORS

A. Jamsheer, M. Wiśniewska, A. Szpak, G. Bugaj, M. R. Krawczyński, B. Budny, A. Wawrocka, A. Latos-Bieleńska

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.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. More... »

PAGES

297-299

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf03195687

DOI

http://dx.doi.org/10.1007/bf03195687

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028188532

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19638688


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