Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

ABSTRACT:

Background

Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause.

Methods

In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE).

Results

All the children had the common clinical and radiological features of this syndrome. However, DNA sequence analysis of the genes shown to be involved (EVC and EVC2) revealed a novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene in one

SUBMITTER: Ali BR 

PROVIDER: S-EPMC2845574 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature