Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Lisbeth Tranebjaerg, Tanya M. Teslovich, Mary Pat Jones, M. Michael Barmada, Toril Fagerheim, Arve Dahl, Diana M. Escolar, Jeffrey M. Trent, Elizabeth M. Gillanders, Dietrich A. Stephan

Research output: Contribution to journalArticle

Abstract

Autosomal recessive ataxias represent genetic and clinical heterogeneity. Unsteady gait is often accompanied by poor coordination of limbs, speech, and eye movements. To date, seven genes have been identified. In addition, five chromosomal loci have been localized in non-related families. Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia.

Original languageEnglish (US)
Pages (from-to)293-295
Number of pages3
JournalHuman genetics
Volume113
Issue number3
DOIs
StatePublished - Aug 1 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13'. Together they form a unique fingerprint.

  • Cite this

    Tranebjaerg, L., Teslovich, T. M., Jones, M. P., Barmada, M. M., Fagerheim, T., Dahl, A., Escolar, D. M., Trent, J. M., Gillanders, E. M., & Stephan, D. A. (2003). Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Human genetics, 113(3), 293-295. https://doi.org/10.1007/s00439-003-0967-8