Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.

BMC Medical Genetics
Dan SunYuanyuan Zhu

Abstract

Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different pathogenic mutations have been identified from over 40 patients to date. Here, we report five Chinese patients with clinical syndromes typified as LS. Despite different initial symptoms, all patients presented developmental regression, dystonia, common radiological features such as symmetrical bilateral brain abnormalities, and similar metabolic results such as elevated plasma lactate and 2,3-dihydroxy-2-methylbutyrate. Utilizing whole-exome sequencing (WES), we identified eight distinct variants in ECHS1, with six novel variants, and the remaining two variants have been previously reported. Interestingly, one of the six novel variants, c.463G > A (p.Gly155Ser), was detected in three patients from unrelated families, suggesting a potential founder effect already described for a few mutations in LS. Incorporating both genetic analysis and medical results, including magnetic resonance imaging (MRI), electroencephalography (EEG), and biochemical testing, our study enriched the mutation spectrum of the ECHS1 gene and confirmed...Continue Reading

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Citations

May 2, 2021·Annals of Clinical and Translational Neurology·Kristin EngelstadDarryl C De Vivo

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Datasets Mentioned

BETA
ESP6500

Methods Mentioned

BETA
PCR
biopsy

Software Mentioned

dbscSNV
GERP
ClinVar
ANNOVAR
BWA
HaplotypeCaller
gnomAD
GATK

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