Amish brittle hair syndrome gene maps to 7p14.1

• Published in: American journal of medical genetics. Part A Vol. 134A; no. 3; pp. 290 - 294
• Main Authors: Seboun, Eric, Lemainque, Arnaud, Jackson, Charles E.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 30.04.2005
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Brittle hair syndrome; chromosome 7p14.1; Chromosome Mapping; Chromosomes, Human, Pair 7 - genetics; Consanguinity; Ethnic Groups - genetics; Family Health; Female; GENEHUNTER; genetic mapping; Genetic Predisposition to Disease - genetics; Growth Disorders - pathology; Hair - abnormalities; Haplotypes; Humans; Infertility - pathology; Lod Score; Male; Microsatellite Repeats; Pedigree; SUPERLINK; Syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.30615

The brittle hair syndrome (BHS) is characterized by short stature, intellectual impairment, brittle hair, and decreased fertility in 20 members from a large Amish consanguineous kindred previously reported affected with this syndrome. We mapped the BHS gene by genome scan to chromosome 7p14.1. Evidence of linkage was supported by a maximum multipoint LOD score of 6 obtained with GENEHUNTER for the linkage interval defined by markers D7S484‐D7S2422 distant by 17.2 cM. Two‐point linkage analysis performed with SUPERLINK yielded a LOD score of 9.02 at θ = 0 for marker D7S2497 located within that interval. Analysis of haplotypes homozygous‐by‐descent allowed fine mapping of the BHS gene within a 4.81 cM interval delimited by markers D7S2497 and D7S691, a region that spreads over 3.42 Mb. © 2005 Wiley‐Liss, Inc.