Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Denise BrocklebankInternational-Venezuela Collaborative Research Group

Abstract

The instability of the CAG repeat size of the HD gene when transmitted intergenerationally has critical implications for genetic counseling practices. In particular, CAG repeats between 27 and 35 have been the subject of debate based on small samples. To address this issue, we analyzed allelic instability in the Venezuelan HD kindreds, the largest and most informative families ascertained for HD. We identified 647 transmissions. Our results indicate that repeats in the 27-35 CAG range are highly stable. Out of 69 transmitted alleles in this range, none expand into any penetrant ranges. Contrastingly, 14% of alleles transmitted from the incompletely penetrant range (36-39 CAGs) expand into the completely penetrant range, characterized by alleles with 40 or more CAG repeats. At least 12 of the 534 transmissions from the completely penetrant range contract into the incompletely penetrant range of 36-39 CAG repeats. In these kindreds, none of the individuals with 27-39 CAGs were symptomatic, even though they ranged in age from 11 to 82 years. We expect these findings to be helpful in updating genetic counseling practices.

References

Nov 17, 1983·Nature·J F GusellaA Y Sakaguchi
Mar 3, 2004·Proceedings of the National Academy of Sciences of the United States of America·Nancy S WexlerUNKNOWN U.S.-Venezuela Collaborative Research Project
Nov 23, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Christopher KenneyJoseph Jankovic
Jul 31, 2007·Journal of Medical Genetics·V C WheelerUNKNOWN US-Venezuela Collaborative Research Group

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Citations

Jul 31, 2013·Journal of Medical Genetics·Alicia SemakaMichael R Hayden
Jan 18, 2012·Annual Review of Medicine·Nancy S Wexler
Feb 7, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Eliana Marisa RamosIsabel Alonso
Mar 5, 2015·American Journal of Medical Genetics. Part a·Wendy R UhlmannRoger L Albin
Jan 9, 2016·Molecular Neurobiology·Yi-Min SunZhi-Ying Wu
Jun 1, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Ira Shoulson, Anne B Young
Sep 26, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Ferdinando Squitieri, Joseph Jankovic
Sep 17, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Alicia SemakaMichael R Hayden
Jan 29, 2013·Clinical Genetics·M C van RijE K Bijlsma
Jan 24, 2017·Neurotoxicology·Ting-Kuang ChaoTamara Pringsheim
May 21, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·A SemakaM R Hayden
Dec 14, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Eliana Marisa RamosJorge Sequeiros
Jul 17, 2015·Clinical Genetics·R M CastilhosUNKNOWN Rede Neurogenética
May 15, 2018·Clinical Genetics·L E Almaguer-MederosL Velázquez-Pérez
Oct 1, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·S M RossetoRita G W Pires

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