Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

American Journal of Medical Genetics. Part a
Anne NørremølleSven Asger Sørensen

Abstract

We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD). In routine DNA analysis of blood cells, they displayed three alleles of the CAG repeat sequence in the HD gene. Two different cell lines, carrying the normal allele together with either an expanded allele with 47 CAGs or an intermediate allele with 37 CAGs, were detected in blood and buccal epithelium from both twins. To our knowledge, this is the first case described of HD gene CAG repeat length mosaicism in blood cells. Haplotype analysis established that the 37 CAG allele most likely arose by contraction of the maternal 47 CAG allele. The contraction must have taken place postzygotically, possibly at a very early stage of development, and probably before separation of the twins. One of the twins has presented symptoms of HD for 4 years; his skin fibroblasts and hair roots carried only the cell line with the 47 CAG repeat allele. The other twin, who is without symptoms at present, displayed mosaicism in skin fibroblasts and hair roots. If the proportion of the two cell lines in the brain of each twin resembles that of their hair roots (another tissue originating from the ectoderm), the mosaicism in the unaffected twin would mea...Continue Reading

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Citations

May 31, 2011·Journal of Medical Genetics·Michelle M AxfordChristopher E Pearson
Jul 15, 2009·Parkinsonism & Related Disorders·Sara BechJørgen E Nielsen
Jan 18, 2016·DNA Repair·Monika H M Schmidt, Christopher E Pearson
Jul 12, 2008·Clinical Genetics·M PanasD Vassilopoulos
Mar 3, 2009·Clinical Genetics·A NørremølleL Hasholt
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra J G ZwijnenburgDorret I Boomsma
Feb 16, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Jiří KlempířJan Roth
Sep 15, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A Schneider, Michael R Johnson
Mar 3, 2009·American Journal of Human Genetics·Simon C WarbyMichael R Hayden

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