Evidence of mosaicism in SPAST variant carriers in four French families.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
13
07
2020
accepted:
24
02
2021
revised:
14
02
2021
pubmed:
8
5
2021
medline:
8
3
2022
entrez:
7
5
2021
Statut:
ppublish
Résumé
Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory.
Identifiants
pubmed: 33958741
doi: 10.1038/s41431-021-00847-4
pii: 10.1038/s41431-021-00847-4
pmc: PMC8298572
doi:
Substances chimiques
Spastin
EC 3.6.4.3
SPAST protein, human
EC 5.6.1.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1158-1163Informations de copyright
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.
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