Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. (5th March 2012)

• Record Type: Journal Article
• Authors: Kurban, M.; Wajid, M.; Shimomura, Y.; Christiano, A.M.
• Is Part Of: Journal of the European Academy of Dermatology and Venereology. Volume 27:Number 5(2013:May)
• Page Start: 545
• Page End: 549
• Publication Date: 2012-03-05
• Subjects: Dermatology -- Periodicals; Sexually transmitted diseases -- Periodicals; 616.5
• DOI: 10.1111/j.1468-3083.2012.04472.x
• Languages: English
• ISSNs: 0926-9959

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p> <bold>Background </bold> Woolly hair (WH) belongs to a family of disorders characterized by hair shaft anomalies that clinically presents with tightly curled hair, which can be divided into syndromic and non‐syndromic forms of WH. We have recently identified mutations in both <italic>LPAR6/P2RY5</italic> and <italic>LIPH</italic> that are associated with autosomal recessive woolly hair (ARWH).</p> <p> <bold>Objective </bold> To study the underlying genetic causes of autosomal woolly hair in Pakistani population.</p> <p> <bold>Methods </bold> We studied 10 Pakistani families with ARWH for mutations in <italic>LPAR6/P2RY5</italic> and <italic>LIPH</italic> and then performed haplotype analysis to confirm their segregation in the families.</p> <p> <bold>Results </bold> We identified five mutations in <italic>LPAR6/P2RY5</italic>, among which three were recurrent and two were novel in eight Pakistani families. We then showed that two of the mutations in <italic>LPAR6/P2RY5</italic> are founder mutations in Pakistani families. Moreover, we identified two recurrent mutations in the <italic>LIPH</italic> gene in two Pakistani families.</p> <p> <bold>Conclusion </bold> Our study extends the spectrum of mutations in <italic>LPAR6/P2RY5</italic> gene and underscores those mutations in <italic>LPAR6/P2RY5</italic> and <italic>LIPH</italic> result in similar phenotypes.</p> </abstract>