Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

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.

• Authors: Sabba Mehmood, Abid Jan, Dost Muhammad, Farooq Ahmad, Hina Mir, Muhammad Younus, Ghazanfar Ali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad
• Journal: The Australasian journal of dermatology (Australas J Dermatol) Vol. 56 Issue 3 Pg. e66-70 (Aug 2015) ISSN: 1440-0960 [Electronic] Australia
• PMID: 24628704 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 The Australasian College of Dermatologists.

Chemical References

• Codon, Nonsense
• LIPC protein, human
• Lipase

Topics

• Adolescent
• Adult
• Base Sequence
• Child
• Codon, Nonsense
• Consanguinity
• Female
• Genes, Recessive
• Hair (pathology)
• Humans
• Hypotrichosis (genetics, pathology)
• Lipase (genetics)
• Male
• Middle Aged
• Pakistan
• Pedigree
• Phenotype
• Sequence Deletion
• Young Adult