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Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
Author(s) -
YOSHIMASU Takashi,
KANAZAWA Nobuo,
KAMBE Naotomo,
NAKAMURA Motonobu,
FURUKAWA Fukumi
Publication year - 2011
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2010.01101.x
Subject(s) - hypotrichosis , exon , genetics , biology , hair follicle , compound heterozygosity , mutation , gene , allele , body hair , endocrinology , anatomy
Woolly hair is characterized by fine and tightly curled hair. It has recently been revealed that both LPAR6 and lipase H ( LIPH ) mutations cause autosomal recessive woolly hair (ARWH)/hypotrichosis. This notion has provided critical evidence to the concept that LPA6 activation by LIPH ‐catalyzed lipid mediator lysophosphatidic acid has a key role in regulation of hair follicle development. Very recently, novel mutations in exon 6, homozygous 736T>A and compound heterozygous 736T>A and 742C>A have been identified in Japanese ARWH/hypotrichosis patients. Here, we report on siblings (a 7‐year‐old Japanese girl and her 5‐year‐old brother) both showing woolly hair. Determination of their genomic sequence showed presence of a homozygous 736T>A transition in exon 6 of the LIPH gene changing cysteine at position 246 to serine, without any mutation in the LPAR6 gene. Additionally, the same mutation was found in one out of a 100 alleles of Japanese healthy controls and identified homozygously in three out of four other Japanese sporadic cases with woolly hair. Collectively, it has been suggested that 736T>A transition is highly specific and common in ARWH/hypotrichosis of Japanese origin.