title: Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients.
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.
authors: Grupo de Neurociencias and Programa de Maestría en Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia.
authors: Luis C
authors: LC
authors: Morales
authors: Gonzalo
authors: G
authors: Arboleda
authors: Yeldy
authors: Y
authors: Rodríguez
authors: Diego A
authors: DA
authors: Forero
authors: Nelson
authors: N
authors: Ramírez
authors: Juan J
authors: JJ
authors: Yunis
authors: Humberto
authors: H
authors: Arboleda
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome
chemical_list: D034904:Lamin Type A