Impact of <scp>SDHA</scp> Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes

We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the SDHA gene, which encodes a key component of mitochondrial complex II. Mitochondrial respiratory chain activities and muscle biopsy confirmed impaired oxidative metabolism. Yeast Saccharomyces cerevisiae complementation assays showed that all the mutations were presumably disease related. Mutations in SDHA are associated with developmental delay, hypotonia, ataxia, together with bilateral hyperintensities in the basal ganglia at brain MRI. This case corroborates the phenotypic variability of SDHA variants and highlights the relevance of functional assays in validating genetic findings.

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Publication Details

Journal
Clinical Genetics
Published
2025-03-06
DOI
https://doi.org/10.1111/cge.14738
Citations
1
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.81

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Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes

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1 citations
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article

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes

Stefano Pagano, Emanuele Bartolini, Flavio Dal Canto, Camilla Meossi, Claudia Nesti, Rosanna Trovato, Filippo Maria Santorelli, Anna Rubegni, Alessandro De Falco, Leonardo Salviati, Marco Marchi
article en
1 citations

Abstract

We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the SDHA gene, which encodes a key component of mitochondrial complex II. Mitochondrial respiratory chain activities and muscle biopsy confirmed impaired oxidative metabolism. Yeast Saccharomyces cerevisiae complementation assays showed that all the mutations were presumably disease related. Mutations in SDHA are associated with developmental delay, hypotonia, ataxia, together with bilateral hyperintensities in the basal ganglia at brain MRI. This case corroborates the phenotypic variability of SDHA variants and highlights the relevance of functional assays in validating genetic findings.

Clinical GeneticsVol. 108(3)
University of Padua (IT), Fondazione Stella Maris (IT), Città della Speranza Foundation (IT)
Ministero della Salute
Good health and well-being
Openalex Percentile: Top 30%
Mitochondrial Function and Pathology
0.81
DOIOpen Access PDFOpenAlex
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