Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient

Journal of Dermatology

Volumn 41, Issue 1, 2014, Pages 105-107

  Liu, Linghua H ^a   Wang, Jingwen W ^a   Chen, Gang ^a   Chang, Ruixue X ^a   Zhou, Yi ^a   Tang, Huayang Y ^a   Zhu, Jun ^a   Wang, Peiguang G ^a   Yang, Sen ^a   Zhang, Xuejun J ^a  

^a ANHUI MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE HYPOTRICHOSIS SIMPLEX; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; EXON; GENE; HAIR DISEASE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LETTER; LIPH GENE; MALE; MISSENSE MUTATION; SCANNING ELECTRON MICROSCOPY; SCHOOL CHILD; ALOPECIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CONGENITAL MALFORMATION; GENETICS; HOMOZYGOTE; HYPOTRICHOSIS; SCALP;

LIPH PROTEIN, HUMAN; TRIACYLGLYCEROL LIPASE;

ALOPECIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; HOMOZYGOTE; HUMANS; HYPOTRICHOSIS; LIPASE; MALE; MUTATION, MISSENSE; SCALP;

EID: 84892796263     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.12309     Document Type: Letter

References (5)

1. Kljuic A, Bazzi H, Sundberg JP, et al,. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 2003; 113: 249-260.
2. Kazantseva A, Goltsov A, Zinchenko R, et al,. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science 2006; 314: 982-985.
3. Pasternack SM, von Kugelgen I, Aboud K, et al,. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 2008; 40: 329-334.
4. Shinkuma S, Akiyama M, Inoue A, et al,. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat 2010; 31: 602-610.
5. Sonoda H, Aoki J, Hiramatsu T, et al,. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. J Biol Chem 2002; 277: 34254-34263.