A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

ABSTRACT:

Background

Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential.

Methods

Whole-exome sequencing was employed to study a consanguineous extended family with severe short stature and variable presentations of peripheral neuropathy, lipoatrophy, photosensitivity, webbed neck, and hirsutism.

Results

We identified a novel homozygous ERCC6 variant at the donor splice site of intron 9 (c.1992 + 3A>G), which was predicted to only slightly perturb splicing efficiencies. Assessment of primary fibroblast-derived mRNAs, however, revealed a dominant splicing species that utilized a

SUBMITTER: Swartz JM 

PROVIDER: S-EPMC4329776 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature