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2009 | 50 | 3 | 297-299
Article title

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

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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.
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Year
Volume
50
Issue
3
Pages
297-299
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ARTICLE
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A. Jamsheer, Chair and Department of Medical Genetics, Grunwaldzka 55, 60-352 Poznan, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-cbeeaa56-6b96-317a-9dc7-63fbcb401661
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