Ahmad_2018_Congenit.Anom.(Kyoto)_58_24

Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p.Gln230*) in family A. In two other families, B and C, sequence analysis of the LPAR6 gene revealed a novel homozygous frameshift variant (c.68_69dupGCAT; p.Phe24Hisfs*29) and a previously reported missense variant (c.188A > T; p.Asp63Val), respectively. Taken together, our findings will expand the spectrum of variants reported in the LIPH and LPAR6 genes.