Werner syndrome

OMIM:277700
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	WRN
Reference transcript	NM_000553.4
DNA Change	c.2179dupT
A.A. Change	p.Cys727Leufs*5
Exon/Intron	exon 19
Mutation Type	duplication
Reference	Friedrich K, Lee L, Leistritz DF, N?rnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, N?rnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, et al.WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet. 2010 Jul;128(1):103-11.

---