Amish brittle hair syndrome gene maps to 7p14.1

Am J Med Genet A. 2005 Apr 30;134(3):290-4. doi: 10.1002/ajmg.a.30615.

Abstract

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 theta = 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7 / genetics*
  • Consanguinity
  • Ethnic Groups / genetics*
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics
  • Growth Disorders / pathology
  • Hair / abnormalities*
  • Haplotypes
  • Humans
  • Infertility / pathology
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Syndrome