Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

ABSTRACT:

Background

The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known.

Objective

To determine if mutations in FANCB, which are known to cause Fanconi anaemia complementation group B, are a cause of X linked VACTERL-H syndrome.

Methods

A three generation pedigree with X linked VACTERL-H syndrome was investigated. X inactivation was tested in carrier females, and fibroblasts from an affected male fetus were analysed for increased sensitivity to diepoxybutane. FANCB coding exons and flanking splice sites were screened for mu

SUBMITTER: Holden ST 

PROVIDER: S-EPMC2564576 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature