A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
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.
Xu
Chao
C
State Key Laboratory of Medical Genomics, Center of Molecular Medicine, Ruijin Hospital, An Affiliate of Shanghai JiaoTong University Medical School, Shanghai, China.
Zhang
Li
L
Chen
Nan
N
Su
Bin
B
Pan
Cun-Ming
CM
Li
Jun-Yan
JY
Zhang
Guo-Wei
GW
Liu
Zhi
Z
Sheng
Yan
Y
Song
Huai-Dong
HD
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