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F. Musa, P. Ratajczak, W. Muen, J. Sahu, S. Pentlicky, G. Richard, C. Willoughby; Ocular and Systemic Features in Oculodentodigital Dysplasia Resulting From a Heterozygous Missense Mutation (L113P) in GJA1 (Cx43) . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1827.
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Purpose: Oculodentodigital dysplasia (ODDD; OMIM #164200) is an autosomal dominant condition with a characteristic facial appearance associated with skeletal, dental and ocular abnormalities and is caused by mutations in GJA1 (Cx43). We present, for the first time, a comprehensive assessment of the ocular features in three affected members of a single family with a molecular diagnosis of ODDD. Methods: All three patients had a full medical examination and a complete ophthalmic examination (including B–scan ultrasound and keratometer readings). The coding region of GJA1 and flanking intronic and 3’UTR sequences were PCR amplified from genomic DNA samples in 2 overlapping fragments for direct DNA sequence analysis. Results: All three affected individuals had the characteristic systemic features of ODDD. The main ophthalmic features were epicanthus, microcornea and the presence of glaucoma. A heterozygous T–>C transition at nucleotide 338 in GJA1 was detected in all affected family members and was not detected in 120 chromosomes of unaffected individuals of Northern European origin. The L113P point mutation results in a non–conservative substitution in the cytoplasmic loop of Cx43 (GJA1) and is predicted to disrupt the high–order structure of Cx43. Conclusions: L113P represents a pathogenic mutation in GJA1 (Cx43) and results in ODDD syndrome. The ocular features suggest Cx43 plays a role in eye development and the development of glaucoma.
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