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- Title
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
- Authors
Mehmood, Sabba; Shah, Sayed Hajan; Jan, Abid; Younus, Muhammad; Ahmad, Farooq; Ayub, Muhammad; Ahmad, Wasim
- Abstract
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.
- Subjects
HAIR diseases; HUMAN abnormality genetics; BODY hair; LIPASES; KERATIN
- Publication
Pediatric Dermatology, 2016, Vol 33, Issue 1, pe40
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.12727