Abstract
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.
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Acknowledgments
The authors thank the patients and their families for the participation in the study. Markus M. Nöthen is recipient of a grant of the Alfried Krupp von Bohlen und Halbach-Stiftung. Regina C. Betz is a recipient of an Emmy Noether grant from the German research foundation (DFG).
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S. Nahum and S. Pasternack are equal contributors.
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Nahum, S., Pasternack, S.M., Pforr, J. et al. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Arch Dermatol Res 301, 391–393 (2009). https://doi.org/10.1007/s00403-008-0903-9
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DOI: https://doi.org/10.1007/s00403-008-0903-9