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. 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 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.

journal_name

J Cutan Pathol

authors

Xu C,Zhang L,Chen N,Su B,Pan CM,Li JY,Zhang GW,Liu Z,Sheng Y,Song HD

doi

10.1111/j.1600-0560.2009.01415.x

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

758-63

issue

7

eissn

0303-6987

issn

1600-0560

pii

CUP1415

journal_volume

37

pub_type

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