Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris.
- Author:
Qiguo ZHANG
1
,
2
,
3
;
Yao YANG
;
Liangqi CAI
;
Yijin HUANG
;
Yan DUAN
;
Yanhua LIANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; China; DNA Mutational Analysis; Exons; genetics; Family Health; Female; Genetic Predisposition to Disease; ethnology; genetics; Humans; Ichthyosis Vulgaris; ethnology; genetics; Intermediate Filament Proteins; genetics; Introns; genetics; Male; Mutation, Missense; Pedigree
- From: Chinese Journal of Medical Genetics 2016;33(5):645-648
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.
METHODSAll coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.
RESULTSTwo novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.
CONCLUSIONThe c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.
