A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.
GNE
Africa
Distal myopathy
Mali
Novel variant
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
01 Aug 2024
01 Aug 2024
Historique:
received:
06
04
2024
accepted:
25
04
2024
medline:
1
8
2024
pubmed:
1
8
2024
entrez:
1
8
2024
Statut:
aheadofprint
Résumé
GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs. Electroneuromyography showed an axonal neuropathy pattern. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE c.1838G > A:p.Gly613Glu, segregating with the phenotype within the family. This study highlights its diagnosis challenges in sub-Saharan Africa and broadens the genetic spectrum of this rare disease.
Identifiants
pubmed: 39088149
doi: 10.1007/s10048-024-00761-z
pii: 10.1007/s10048-024-00761-z
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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