Recurrent MECR R258W causes adult-onset optic atrophy: A case report.
Eur J Med Genet
; 68: 104917, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38296034
ABSTRACT
MECR-related neurologic disorder, also known as mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) or dystonia with optic atrophy and basal ganglia abnormalities in childhood (MIM #617282), is an autosomal recessive inherited disease characterized by a progressive childhood-onset movement disorder and optic atrophy. Here we report a 19-year-old male, presented with progressive visual failure, nystagmus, and right orbital pain, with no history of movement or eye disorder in his childhood. His visual decline started at age 18 years, whereas nystagmus emerged seven months later. Analysis of whole-exome sequencing (WES) revealed a homozygous recurrent variant (NM_016011.5c.772C > T, p.Arg258Trp) in MECR. These findings suggest phenotypic heterogeneity in MECR-related neurologic disorder, thus, more relevant case screening, will help to delineate the genotype-phenotype correlation of the MECR gene.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Óptica
/
Distúrbios Distônicos
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Distonia
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Transtornos dos Movimentos
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
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Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article