Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients

Am J Med Genet A. 2009 Dec;149A(12):2695-9. doi: 10.1002/ajmg.a.33090.

Abstract

The Wiedemann-Rautenstrauch syndrome (WRS, OMIM: 264090) characterizes a premature aging syndrome in which several features of aging are apparent at birth. We did not find mutations in Lamin A/C (LMNA) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson-Gilford progeria (OMIM 176670). These findings suggest that WRS represents a distinct progeroid entity that may be caused by recessive mutations of a different gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Lamin Type A / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Syndrome

Substances

  • Lamin Type A