Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

ABSTRACT:

Background

Dubowitz syndrome (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation, eczema and peculiar facies. Over 140 cases have been reported, but the genetic basis is not understood.

Methods

We enrolled a multiplex consanguineous family from the United Arab Emirates with many of the key clinical features of DS as reported in previous series. The family was analyzed by whole exome sequencing. RNA splicing was evaluated with reverse-transcriptase PCR, immunostaining and western blotting was performed with specific antibodies, and site-specific cytosine-5-methylation was studied with bisulfite sequencing.

Results

We identified a homozygous splice mutation in the NSUN2 gene, encoding a conserved

SUBMITTER: Martinez FJ 

PROVIDER: S-EPMC4771841 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature