title: A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
abstract: BACKGROUND
  Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. The locus for autosomal dominant HHS was mapped to 18p11.32-p11.23 and 6p21.3, respectively, suggestive of genetic heterogeneity.
  
  
  OBJECTIVE
  To identify the disease-causing gene for a four-generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics.
  
  
  METHODS
  Genome-wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program.
  
  
  RESULTS
  The highest two-point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at theta = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease-causing gene was mapped to 13q12.12 approximately 12.3 in this family.
  
  
  CONCLUSIONS
  A novel locus for HHS maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
authors.affiliation: State Key Laboratory of Medical Genomics, Center of Molecular Medicine, Ruijin Hospital, An Affiliate of Shanghai JiaoTong University Medical School, Shanghai, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Xu
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Nan
authors.initials: N
authors.lastname: Chen
authors.forename: Bin
authors.initials: B
authors.lastname: Su
authors.forename: Cun-Ming
authors.initials: CM
authors.lastname: Pan
authors.forename: Jun-Yan
authors.initials: JY
authors.lastname: Li
authors.forename: Guo-Wei
authors.initials: GW
authors.lastname: Zhang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Liu
authors.forename: Yan
authors.initials: Y
authors.lastname: Sheng
authors.forename: Huai-Dong
authors.initials: HD
authors.lastname: Song
mesh_terms: D000328:Adult; D044466:Asian People; D002675:Child, Preschool; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree