[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris].

Abstract

OBJECTIVE:

To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.

METHODS:

All 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.

RESULTS:

Two 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.

CONCLUSION:

The 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.

• Authors: Qiguo Zhang, Yao Yang, Liangqi Cai, Yijin Huang, Yan Duan, Yanhua Liang
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 33 Issue 5 Pg. 645-8 (Oct 2016) ISSN: 1003-9406 [Print] China
• PMID: 27577213 (Publication Type: Journal Article)

Chemical References

• FLG protein, human
• Filaggrin Proteins
• Intermediate Filament Proteins

Topics

• Asian People (genetics)
• Base Sequence
• China
• DNA Mutational Analysis
• Exons (genetics)
• Family Health
• Female
• Filaggrin Proteins
• Genetic Predisposition to Disease (ethnology, genetics)
• Humans
• Ichthyosis Vulgaris (ethnology, genetics)
• Intermediate Filament Proteins (genetics)
• Introns (genetics)
• Male
• Mutation, Missense
• Pedigree