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A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Li, Wenhui; Zhang, Min; Zhang, Linmei; Shi, Yiyun; Zhao, Lei; Wu, Bingbing; Li, Xihua; Zhou, Shuizhen.
Afiliación
  • Li W; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
  • Zhang M; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
  • Zhang L; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
  • Shi Y; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
  • Zhao L; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
  • Wu B; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Li X; Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Zhou S; Department of Neurology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
BMC Neurol ; 20(1): 278, 2020 Jul 13.
Article en En | MEDLINE | ID: mdl-32660532
ABSTRACT

BACKGROUND:

Variants in the SLC25A1 gene are associated with a severe neurometabolic disease, D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). A report in 2014 presented the first account of congenital myasthenic syndrome (CMS) with mild intellectual disability (ID) caused by SLC25A1. To date, only two missense variants in SLC25A1 have been linked to CMS. CASE PRESENTATIONS A Chinese boy presented fatigable muscular weakness, myasthenic crisis, epilepsy and developmental delay along with mild elevation of urinary 2-ketoglutarate (2-KG) and lactic acid levels. He showed a partial response to pyridostigmine. Genetic analysis using trio whole-exome sequencing (WES), Sanger sequencing, and cosegregation analyses revealed two novel pathogenic variants of SLC25A1 (c.628C > T, p.R210X; c.145G > A, p.V49M).

CONCLUSIONS:

We report a boy who carries novel compound heterozygous variants of SLC25A1 and presents a phenotype intermediate between CMS and D/L-2-HGA. This case expands the range of known phenotypes and genotypes associated with SLC25A1.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación Missense / Encefalopatías Metabólicas Innatas / Síndromes Miasténicos Congénitos / Transportadores de Anión Orgánico / Proteínas Mitocondriales Límite: Child / Humans / Male Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación Missense / Encefalopatías Metabólicas Innatas / Síndromes Miasténicos Congénitos / Transportadores de Anión Orgánico / Proteínas Mitocondriales Límite: Child / Humans / Male Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China