A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family

Clinical and Experimental Dermatology

Volumn 39, Issue 1, 2014, Pages 75-77

  Yang, S X ^a   Yin, J H ^a   Lin, Z M ^a   Wang, H J ^a   Ren, Y L ^a   Zhang, J ^a   Li, R Y ^a   Yang, Y ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CORNEODESMOSIN; DEOXYRIBONUCLEASE; GENOMIC DNA; GLYCOPROTEIN; MESSENGER RNA; RIBONUCLEASE; RNA; UNCLASSIFIED DRUG;

ADULT; ALOPECIA; BLOOD; BLOOD SAMPLING; CASE REPORT; CHINESE; CUTICLE; DISEASE COURSE; DNA EXTRACTION; ETHNICITY; EYEBROW; EYELASH; FAMILIAL DISEASE; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAIR LOSS; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTRICHOSIS; LETTER; LEUKOCYTE; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PRIORITY JOURNAL; PUBERTY; RNA EXTRACTION; SCALP HAIR; SCANNING ELECTRON MICROSCOPY; STOP CODON;

CHINA; CODON, NONSENSE; FEMALE; GLYCOPROTEINS; HUMANS; HYPOTRICHOSIS; PEDIGREE; SCALP DERMATOSES; YOUNG ADULT;

EID: 84890567093     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12168     Document Type: Letter

References (5)

1. Levy-Nissenbaum E, Betz RC, Frydman M, et al,. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003; 34: 151-3.
2. Davalos NO, Garcia-Vargas A, Pforr J, et al,. A nonsense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol 2005; 153: 1216-19.
3. Huang XS, Jiang HO, Quan QL,. Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2012; 29: 452-4.
4. Capon F, Allen MH, Ameen M, et al,. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Hum Mol Genet 2004; 13: 2361-8.
5. Israeli S, Zamir H, Sarig O, et al,. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 2011; 131: 779-81.