A New GJA1 (Connexin 43) Mutation Causing Oculodentodigital Dysplasia Associated to Uncommon Features

Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder that includes a clinical spectrum of craniofacial, neurologic, limb, and ocular malformations. The disease is caused by heterozygous mutations in the 6q22-q23 located GJA1 gene, that encodes connexin 43 (Cx43). In this paper we des...

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Bibliographic Details
Published in:Ophthalmic genetics 2007-12, Vol.28 (4), p.198-202
Main Authors: de la Parra, David Rivera, Zenteno, Juan Carlos
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Child
connexin 43
Connexin 43 - genetics
Cornea - abnormalities
Facies
Fingers - abnormalities
GJA1
Humans
Male
microcornea
Mutation
Oculodentodigital dysplasia
ODDD
Tooth Abnormalities - genetics
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Summary:Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder that includes a clinical spectrum of craniofacial, neurologic, limb, and ocular malformations. The disease is caused by heterozygous mutations in the 6q22-q23 located GJA1 gene, that encodes connexin 43 (Cx43). In this paper we describe a novel Cx43 mutation (G2V) found in a Mexican eight-year-old boy. This de novo mutation predicts a missense substitution at the second amino acid of Cx43, in the first intracellular domain, and is the most amino-terminal located mutation reported so far. Umbilical hernia and congenital optociliary veins, two uncommon ODDD-associated features, were recognized in our patient. The phenotype of three previously described patients with Cx43 first intracellular domain mutation is discussed and compared with that observed in our patient. This case expands the phenotypic and genotypic spectrum of ODDD.
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810701538620