Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis

被引：5

作者：

Mehmood, Sabba ^{[1
]}

Shah, Sayed Hajan ^{[2
]}

Jan, Abid ^{[1
]}

Younus, Muhammad ^{[1
]}

Ahmad, Farooq ^{[1
]}

Ayub, Muhammad ^{[3
]}

Ahmad, Wasim ^{[1
]}

机构：

[1] Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad 44000, Pakistan

[2] Sindh Inst Urol & Transplantat, Ctr Human Genet & Mol Med, Karachi, Pakistan

[3] Univ Baluchistan, Inst Biochem, Quetta, Pakistan

来源：

PEDIATRIC DERMATOLOGY | 2016年 / 33卷 / 01期

关键词：

AUTOSOMAL RECESSIVE HYPOTRICHOSIS; MUTATIONS; FAMILIES; HAIR;

D O I：

10.1111/pde.12727

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Hypotrichosis is a condition of abnormal hair pattern characterized by sparse to absent hair on different parts of the body, including the scalp. The condition is often characterized by tightly curled woolly hairs, discoloration of hair, and development of multiple keratin filled cysts or papules on the body. Sequence analysis of the lipase H (LIPH) gene, mapped on chromosome 3q27.3, led to the identification of a novel frameshift deletion variant (c.932delC, p.Pro311Leufs*3) in one family and previously reported 2-bp deletion (c.659_660delTA) in five other families, inherited hypotrichosis, and woolly hair in an autosomal recessive pattern. The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype.

引用

页码：E40 / E42

页数：3

共 5 条

[1] A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3 [J].