Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.
J Hum Genet
; 69(6): 283-285, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38374165
ABSTRACT
Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedad de Leigh
/
Empalme del ARN
Límite:
Adult
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Female
/
Humans
Idioma:
En
Revista:
J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Reino Unido