Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations

PLoS ONE

Volumn 9, Issue 2, 2014, Pages

  Tanahashi, Kana ^a   Sugiura, Kazumitsu ^a   Kono, Michihiro ^a   Takama, Hiromichi ^b   Hamajima, Nobuyuki ^a   Akiyama, Masashi ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Takama Dermatology Clinic   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ALOPECIA; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; GENE; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOTRICHOSIS; JAPAN; JAPANESE; LIPH GENE; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; SEQUENCE ANALYSIS;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA PRIMERS; FOUNDER EFFECT; GENE FREQUENCY; GENETICS, POPULATION; GENOTYPE; HAIR; HAIR DISEASES; HAPLOTYPES; HUMANS; HYPOTRICHOSIS; LIPASE; MUTATION; PHENOTYPE;

EID: 84895878619     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0089261     Document Type: Article

References (12)

1. Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, et al. (2006) Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science 314: 982-985. (Pubitemid 44749941)
2. Pasternack SM, von Kugelgen I, Al Aboud K, Lee YA, Ruschendorf F, et al. (2008) G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 40: 329-334. (Pubitemid 351311768)
3. Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, et al. (2002) A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. J Biol Chem 277: 34254-34263.
4. Pasternack SM, von Kugelgen I, Muller M, Oji V, Traupe H, et al. (2009) In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol 129: 2772-2776.
5. Shimomura Y, Ito M, Christiano AM (2009) Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. J Dermatol Sci 56: 205-207.
6. Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, et al. (2010) Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat 31: 602-610.
7. Suga H, Tsunemi Y, Sugaya M, Shinkuma S, Akiyama M, et al. (2011) Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. Acta Derm Venereol 91: 486-488.
8. Yoshimasu T, Kanazawa N, Kambe N, Nakamura M, Furukawa F (2011) Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. J Dermatol 38: 900-904.
9. Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, et al. (2013) Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. J Eur Acad Dermatol Venereol 27: 1182-1184.
10. Kono M, Nomura T, Oguchi Y, Mizuno O, Suzuki S, et al. (2014) Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations. Allergy: in press.
11. Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM (2009) Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 129: 622-628.
12. Ali G, Chishti MS, Raza SI, John P, Ahmad W (2007) A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet 121: 319-325. (Pubitemid 46554668)