Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q

Hum Genet. 2012 Feb;131(2):311-3. doi: 10.1007/s00439-011-1134-2. Epub 2011 Dec 29.

Abstract

Stuttering is a common neurologic disorder in children that can persist into adulthood. Although stuttering displays high heritability, Mendelian segregation typically does not occur, and linkage studies have produced limited success. A genome-wide single nucleotide polymorphism (SNP) linkage scan in a consanguineous Pakistani family followed by targeting genotyping using microsatellite markers revealed linkage on chromosome 16q. The highest linkage scores were obtained under a modified recessive model of inheritance, with a maximum multipoint LOD score of 4.42 at marker D16S3043.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 16*
  • Consanguinity
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Stuttering / genetics*