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
Externally publishedYes

Fingerprint

Recessive Genes
Ataxia
Neurologic Gait Disorders
Genome
Genetic Heterogeneity
Eye Movements
Extremities
Chromosomes
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Tranebjaerg, L., Teslovich, T. M., Jones, M. P., Barmada, M. M., Fagerheim, T., Dahl, A., ... 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

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. / Tranebjaerg, Lisbeth; Teslovich, Tanya M.; Jones, Mary Pat; Barmada, M. Michael; Fagerheim, Toril; Dahl, Arve; Escolar, Diana M.; Trent, Jeffrey M.; Gillanders, Elizabeth M.; Stephan, Dietrich A.

In: Human Genetics, Vol. 113, No. 3, 01.08.2003, p. 293-295.

Research output: Contribution to journalArticle

Tranebjaerg, L, Teslovich, TM, Jones, MP, Barmada, MM, Fagerheim, T, Dahl, A, Escolar, DM, Trent, JM, Gillanders, EM & Stephan, DA 2003, 'Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13', Human Genetics, vol. 113, no. 3, pp. 293-295. https://doi.org/10.1007/s00439-003-0967-8
Tranebjaerg, Lisbeth ; Teslovich, Tanya M. ; Jones, Mary Pat ; Barmada, M. Michael ; Fagerheim, Toril ; Dahl, Arve ; Escolar, Diana M. ; Trent, Jeffrey M. ; Gillanders, Elizabeth M. ; Stephan, Dietrich A. / Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. In: Human Genetics. 2003 ; Vol. 113, No. 3. pp. 293-295.
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