Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.

Abstract

Oculodentodigital dysplasia (ODDD) is a rare, autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 (Cx43 or GJA1) gene. Described here is the case of a 10-year-old girl with enamel hypoplasia, typical facies and mental delay, initially thought to be related to an unknown metabolic disorder. Careful clinical re-evaluation revealed a type of ODDD, characterised by the predominance of facial and ophthalmological involvement with mandibular retrognathism, and by the absence of cutaneous hand or foot syndactyly. A novel single-sequence variation (Nt460A>G) in exon 2, resulting in the substitution of alanine for threonine at amino acid 154, was found. These findings confirm once again the highly variable phenotypic expression caused by Cx43 mutations.

• Authors: R J J van Es, D Wittebol-Post, F A Beemer
• Journal: International journal of oral and maxillofacial surgery (Int J Oral Maxillofac Surg) Vol. 36 Issue 9 Pg. 858-60 (Sep 2007) ISSN: 0901-5027 [Print] Denmark
• PMID: 17509830 (Publication Type: Case Reports, Journal Article)

Chemical References

• Connexin 43

Topics

• Abnormalities, Multiple (genetics)
• Child
• Child, Preschool
• Connexin 43 (genetics)
• Craniofacial Abnormalities (complications, genetics)
• DNA Mutational Analysis
• Dental Enamel Hypoplasia (genetics)
• Eye Abnormalities (complications, genetics)
• Facies
• Female
• Humans
• Odontodysplasia (complications, genetics)
• Retrognathia (complications, genetics)
• Syndactyly (complications, genetics)