The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria.
- Author:
Jun SONG
1
;
Huan ZHOU
;
Ren-qi LU
;
Li-ping ZHANG
;
Hong SUN
Author Information
- Publication Type:Journal Article
- MeSH: Adenosine Deaminase; genetics; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Female; Genotype; Humans; Male; Molecular Sequence Data; Mutation; Mutation, Missense; Pedigree; Pigmentation Disorders; congenital; enzymology; genetics; Point Mutation; RNA-Binding Proteins; Young Adult
- From: Chinese Journal of Medical Genetics 2010;27(5):576-578
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).
METHODSMutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls.
RESULTSA missense mutation of c.3463C>T, which results in p.R1155W in the ADAR1 protein, was found in the 2 patients, but was absent in the 2 healthy members in the family and 50 unrelated individuals.
CONCLUSIONA missense mutation of c.3463C>T in the ADAR1 gene was detected in the DSH family, which is likely responsible for the pathogenesis of the disease.
