Back to Search
Start Over
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
- Source :
-
International journal of oral and maxillofacial surgery [Int J Oral Maxillofac Surg] 2007 Sep; Vol. 36 (9), pp. 858-60. Date of Electronic Publication: 2007 May 16. - Publication Year :
- 2007
-
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.
- Subjects :
- Child
Child, Preschool
Craniofacial Abnormalities complications
Craniofacial Abnormalities genetics
DNA Mutational Analysis
Dental Enamel Hypoplasia genetics
Eye Abnormalities complications
Facies
Female
Humans
Odontodysplasia complications
Retrognathia complications
Syndactyly complications
Abnormalities, Multiple genetics
Connexin 43 genetics
Eye Abnormalities genetics
Odontodysplasia genetics
Retrognathia genetics
Syndactyly genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0901-5027
- Volume :
- 36
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- International journal of oral and maxillofacial surgery
- Publication Type :
- Academic Journal
- Accession number :
- 17509830
- Full Text :
- https://doi.org/10.1016/j.ijom.2007.03.004