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- Title
Mutations in the lipase- H gene causing autosomal recessive hypotrichosis and woolly hair.
- Authors
Mehmood, Sabba; Jan, Abid; Muhammad, Dost; Ahmad, Farooq; Mir, Hina; Younus, Muhammad; Ali, Ghazanfar; Ayub, Muhammad; Ansar, Muhammad; Ahmad, Wasim
- Abstract
Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease-causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype analysis established links in all four families to the LIPH gene located on chromosome 3q27.2. Subsequently, sequencing LIPH identified a novel non-sense mutation (c.328C> T; p. Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_ 660delTA, p. Ile220ArgfsX29) in three other families.
- Subjects
LIPASES; DELETION mutation; HAPLOTYPES; HAIR diseases; SCALP; DISEASES
- Publication
Australasian Journal of Dermatology, 2015, Vol 56, Issue 3, pe66
- ISSN
0004-8380
- Publication type
Article
- DOI
10.1111/ajd.12157