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Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c.454G&gt;A, c.614A&gt;G, c.736T&gt;A, c.742C&gt;A. c.736T&gt;A and c.742C&gt;A mutations were reported in previous studies, and c.454G&gt;A, c.614A&gt;G were identified for the first time. We carried out functional studies of the two mutants with c.454G&gt;A (p.Gly152Arg, G152R) or c.614A&gt;G (p.His205Arg, H205R). Interestingly, both of them lead to secretion defects of LIPH, which are involved in the pathogenesis of ARWH/HT.

mutagenesis

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT)