Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.
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.
Tranebjaerg
Lisbeth
L
Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK-2400, Copenhagen NV, Denmark. lisbetht@fagmed.uit.no
Teslovich
Tanya M
TM
Jones
MaryPat
M
Barmada
M Michael
MM
Fagerheim
Toril
T
Dahl
Arve
A
Escolar
Diana M
DM
Trent
Jeffrey M
JM
Gillanders
Elizabeth M
EM
Stephan
Dietrich A
DA
D000293:Adolescent; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005456:Fluorescent Dyes; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009664:Norway; D010375:Pedigree
D005456:Fluorescent Dyes