A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.

Sagi Nahum, Sandra M Pasternack, Jana Pforr, Margarita Indelman, Bernd Wollnik, Reuven Bergman, Markus M Nöthen, Arne König, Ziyad Khamaysi, Regina C Betz, Eli Sprecher

Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel.

Archives of dermatological research 2009 Jun

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Autosomal recessive hypotrichosis simplex (ARHS) manifests with paucity of hair appearing during early childhood. We assessed four affected families. We initially genotyped three of these families for a panel of microsatellite markers spanning all ARHS-associated loci and obtained data suggesting linkage to 3q27, encompassing LIPH, which had previously been shown to be associated with ARHS. Accordingly, a homozygous duplication mutation in exon 2 of this gene (c.280_369dup; p.Gly94_Lys123dup) was found to segregate with the disease in all the families. Through the identification of the first duplication mutation in the human LIPH gene, we provide further evidence supporting a role for the phospholipase signalling pathway in hair growth and differentiation.

Citation

Sagi Nahum, Sandra M Pasternack, Jana Pforr, Margarita Indelman, Bernd Wollnik, Reuven Bergman, Markus M Nöthen, Arne König, Ziyad Khamaysi, Regina C Betz, Eli Sprecher. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Archives of dermatological research. 2009 Jun;301(5):391-3