Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.
clinical genetics
neurology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
received:
29
02
2020
revised:
27
04
2020
accepted:
16
05
2020
pubmed:
24
6
2020
medline:
2
2
2022
entrez:
24
6
2020
Statut:
ppublish
Résumé
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. 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) Our analysis revealed an unexpectedly high frequency of expanded SBMA-associated alleles, with (CAG) Asymptomatic men of the general population with no/unknown SBMA family history are free of risk when carrying (CAG)
Sections du résumé
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)
Identifiants
pubmed: 32571900
pii: jmedgenet-2020-106963
doi: 10.1136/jmedgenet-2020-106963
doi:
Types de publication
Journal Article
Meta-Analysis
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
385-391Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
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 services for and/or received honoraria from Novartis, Sanofi-Genzyme, Genesis Pharma, Specifar, Pfizer, Roche, Teva, Merck and Integris Pharma.