Ontology highlight
ABSTRACT:
SUBMITTER: Lessel D
PROVIDER: S-EPMC4167236 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20140702 10
We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood DNA showed a homozygous c.626-1G > C mutation in intron 5 of the SAMHD1 gene, which encodes a triphosphohydrolase involved in the regulation o ...[more]