Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

ABSTRACT: Autosomal-recessive cutis laxa type 2 (ARCL2) is a multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin, joint laxity, and a general developmental delay. Cutis laxa includes a family of clinically overlapping conditions with confusing nomenclature, generally requiring molecular analyses for definitive diagnosis. Six genes are currently known to mutate to yield one of these related conditions. We ascertained a cohort of typical ARCL2 patients from a subpopulation isolate within eastern Canada. Homozygosity mapping with high-density SNP genotyping excluded all six known genes, and instead identified a single homozygous region near the telomere of chromosome 17, shared identically by state by all genotyped affected individuals from the families. A put

SUBMITTER: Guernsey DL 

PROVIDER: S-EPMC2706970 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature