A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family |
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| Authors: | Chao Xu Li Zhang Nan Chen Bin Su Cun‐Ming Pan Jun‐Yan Li Guo‐Wei Zhang Zhi Liu Yan Sheng Huai‐Dong Song |
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| Affiliation: | 1. State Key Laboratory of Medical Genomics, Center of Molecular Medicine, Ruijin Hospital, An Affiliate of Shanghai JiaoTong University Medical School, Shanghai, China, 200025;2. Weihai Hospital, An Affiliate of Medical College of Qingdao University, Shandong, Weihai, China, 264200;3. Department of Dermatology, Provincial Hospital affiliated to Shandong University, Jinan, China, 250021 Chao Xu and Li Zhang contributed equally to this work. |
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| 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. Aim: 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 θ = 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 13q12.12～12.3 in this family. Conclusions: A novel locus for HHS maps to chromosome 13q12.12～12.3 in a Chinese family. Xu C, Zhang L, Chen N, Su B, Pan C‐M, Li J‐Y, Zhang G‐W, Liu Z, Sheng Y, Song H‐D. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12～12.3 in a Chinese family. |
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