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Mutations in the lipase‐ H gene causing autosomal recessive hypotrichosis and woolly hair
Author(s) -
Mehmood Sabba,
Jan Abid,
Muhammad Dost,
Ahmad Farooq,
Mir Hina,
Younus Muhammad,
Ali Ghazanfar,
Ayub Muhammad,
Ansar Muhammad,
Ahmad Wasim
Publication year - 2015
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.12157
Subject(s) - hypotrichosis , haplotype , genetics , scalp , gene , biology , mutation , body hair , allele , anatomy
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. A rg110*) in one and a previously reported 2‐bp deletion mutation (c.659_ 660delTA , p. Ile220ArgfsX29 ) in three other families.