CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.

ABSTRACT: Hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM) are both caused by mutations in the CDH3 gene. In this report, we describe a family with EEM syndrome caused by a novel CDH3 gene mutation and review the mutation spectrum and limb abnormalities in both EEM and HJMD. A protein structure model showing the localization of different mutations causing both syndromes is presented. The CDH3 gene was sequenced and investigation of the mutations performed using a protein structure model. The conservation score was calculated by ConSurf. We identified a novel CDH3 gene mutation, p.G277V, which resides in a conserved residue located on a β-strand in the second cadherin domain. Review of the data on previously published mutations sh

SUBMITTER: Basel-Vanagaite L 

PROVIDER: S-EPMC3214945 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature