Premium
Frameshift Sequence Variants in the Human Lipase‐H Gene Causing Hypotrichosis
Author(s) -
Mehmood Sabba,
Shah Sayed Hajan,
Jan Abid,
Younus Muhammad,
Ahmad Farooq,
Ayub Muhammad,
Ahmad Wasim
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12727
Subject(s) - frameshift mutation , hypotrichosis , genetics , medicine , gene , lipase , sequence (biology) , biology , mutation , enzyme , biochemistry
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_660del TA ) 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.