Leigh Syndrome Is Geno- And Pheno-Typically Heterogeneous

Josef Finsterer

doi:10.47310/hjcmph.2021.v02i02.010

August 30, 2021

Leigh Syndrome Is Geno- And Pheno-Typically Heterogeneous

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Key Points

Leigh syndrome is characterized by considerable heterogeneity in both genotype and phenotype, affecting diagnosis and treatment.
The study highlights a specific case of a 22-month-old with leigh syndrome attributed to a SURF1 variant, underscoring genetic complexity.
Information concerning the exact nature of the SURF1 variant remains unspecified, adding to the uncertainty in understanding its role in the syndrome.
Research suggests that leigh syndrome can arise from multiple genetic causes, indicating a need for comprehensive genetic testing to inform clinical approaches.

Implication

Observational analysis reveals genetic variants in leigh syndrome, indicating a complex genetic basis.

Abstract

With interest we read the article by Baskaran et al. about a 22 months-old female with Leigh-syndrome (LS) due to a variant in SURF1, phenotypically manifesting with classical features of the syndrome [1]. We have the following comments and concerns. A shortcoming of the study is that the causative SURF1 variant was not specified. Additionally, information if the variant occurred in the homo- or heterozygous form is missing. Furthermore, we do not agree that LS is only caused by variants in genes encoding proteins responsible for

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Cite This Study

Josef Finsterer (2021) studied this question.

synapsesocial.com/papers/68a370ef0a429f797333378e https://doi.org/10.47310/hjcmph.2021.v02i02.010

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Leigh Syndrome Is Geno- And Pheno-Typically Heterogeneous

Key Points

Implication

Abstract

Discussion

Cite This Study

Leigh Syndrome Is Geno- And Pheno-Typically Heterogeneous

Key Points

Implication

Abstract

Discussion

Cite This Study

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