Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

ABSTRACT:

Background

Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility.

Methods

Three Moroccan siblings, born from non-consanguineous Moroccan healthy parents were referred for genetic evaluation of familial scleroderma. Whole Exome Sequencing was performed in the proband and his parents, in addition to Sanger sequencing that was carried out to confirm the results obtained.

Results

Mutation analysis showed two compound heterozygous mutations c.196C>T in exon 4 and c.635_636delTT in exon 9 of

SUBMITTER: Zrhidri A 

PROVIDER: S-EPMC5615433 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature