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Laskaratos A, Breza M, Karadima G, et al. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach. J Med Genet. 2020;58(6):385-391doi: 10.1136/jmedgenet-2020-106963.
Laskaratos, A., Breza, M., Karadima, G., & Koutsis, G. (2021). Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach. Journal of medical genetics, 58(6), 385-391. https://doi.org/10.1136/jmedgenet-2020-106963
Laskaratos, Achilleas, et al. "Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach." Journal of medical genetics vol. 58,6 (2021): 385-391. doi: https://doi.org/10.1136/jmedgenet-2020-106963
Laskaratos A, Breza M, Karadima G, Koutsis G. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach. J Med Genet. 2021 Jun;58(6):385-391. doi: 10.1136/jmedgenet-2020-106963. Epub 2020 Jun 22. PMID: 32571900.
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J Med Genet. 2021 Jun;58(6):385-391. doi: 10.1136/jmedgenet-2020-106963. Epub 2020 Jun 22.

Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.

Journal of medical genetics

Achilleas Laskaratos, Marianthi Breza, Georgia Karadima, Georgios Koutsis

Affiliations

  1. Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian University of Athens, Eginition University Hospital, Athens, Greece.
  2. Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian University of Athens, Eginition University Hospital, Athens, Greece [email protected] [email protected].

PMID: 32571900 DOI: 10.1136/jmedgenet-2020-106963

Abstract

BACKGROUND: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We presently sought to determine the range of reduced penetrance alleles in SBMA.

METHODS: Through systematic literature review and meta-analysis, we collected and analysed data from 2576 patients with SBMA and compared the distributions of the CAG repeat number (CAG)

RESULTS: Our analysis revealed an unexpectedly high frequency of expanded SBMA-associated alleles, with (CAG)

CONCLUSION: Asymptomatic men of the general population with no/unknown SBMA family history are free of risk when carrying (CAG)

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Keywords: clinical genetics; neurology

Conflict of interest statement

Competing interests: GKa has received research grants from Pfizer and provided consultation services for Roche. GKo has received research grants from Teva and Genesis Pharma and provided consultation

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