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Title: Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?)
Authors: Legius, Eric ×
Cuppens, Harry
Dierick, H
Van Zandt, Karel
Dom, René
Fryns, Jean-Pierre
Evers-Kiebooms, Gerry
Decruyenaere, Marleen
Demyttenaere, Koen
Marynen, Peter #
Issue Date: Aug-1994
Series Title: European Journal of Human Genetics vol:2 issue:1 pages:44-50
Abstract: Huntington's disease (HD) is an autosomal dominant disorder with choreic movements, psychiatric manifestations and cognitive dysfunction. Recently the IT15 gene on chromosome 4p has been identified containing an unstable and expanded trinucleotide repeat in patients with HD. We report on the characteristics of this repeat in 248 individuals from 41 Belgian HD families. The length of the expanded repeat was defined precisely and reproducibly on an ALF sequencer and correlated well with the age of onset (r = -0.72). Paternal transmission of the expanded repeat resulted on average in a significantly longer repeat length (+2.79 repeats) than maternal transmission (-0.29 repeats). (CAG)n repeat of a premutation (?) size was observed in this population with subsequent expansion in the disease range. Presymptomatic or prenatal testing using only linked markers may be problematic in these cases.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Psychiatry
Molecular Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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