Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

Fałek, Olga; Wesół-Kucharska, Dorota; Starostecka, Ewa; Rokicki, Dariusz; Fortecka-Piestrzeniewicz, Katarzyna; Kępczyński, Łukasz; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Maroszyńska, Iwona

doi:10.3390/genes15101289

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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

by

Olga Fałek

^1,*,

Dorota Wesół-Kucharska

²

,

Ewa Starostecka

³,

Dariusz Rokicki

²

,

Katarzyna Fortecka-Piestrzeniewicz

¹,

Łukasz Kępczyński

⁴

,

Dorota Piekutowska-Abramczuk

⁵,

Elżbieta Ciara

⁵

and

Iwona Maroszyńska

¹

Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother‘s Memorial Hospital Research Institute, 93-338 Lodz, Poland

²

Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, 04-730 Warsaw, Poland

³

Department of Endocrinology and Metabolic Diseases, Polish Mother‘s Memorial Hospital—Research Institute, 93-338 Lodz, Poland

⁴

Department of Genetics, Polish Mother‘s Memorial Hospital—Research Institute, 93-338 Lodz, Poland

⁵

Department of Medical Genetics, Children’s Memorial Health Institute, 04-730 Warsaw, Poland

^*

Author to whom correspondence should be addressed.

Genes 2024, 15(10), 1289; https://doi.org/10.3390/genes15101289

Submission received: 22 July 2024 / Revised: 22 September 2024 / Accepted: 27 September 2024 / Published: 30 September 2024

(This article belongs to the Section Human Genomics and Genetic Diseases)

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Abstract

This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the MT-TL1 gene, which was also present in their oligosymptomatic mother and their mother’s sister, an asymptomatic carrier.

Keywords: cardiomyopathy; lactic acidosis; mitochondrial disease

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MDPI and ACS Style

Fałek, O.; Wesół-Kucharska, D.; Starostecka, E.; Rokicki, D.; Fortecka-Piestrzeniewicz, K.; Kępczyński, Ł.; Piekutowska-Abramczuk, D.; Ciara, E.; Maroszyńska, I. Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy. Genes 2024, 15, 1289. https://doi.org/10.3390/genes15101289

AMA Style

Fałek O, Wesół-Kucharska D, Starostecka E, Rokicki D, Fortecka-Piestrzeniewicz K, Kępczyński Ł, Piekutowska-Abramczuk D, Ciara E, Maroszyńska I. Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy. Genes. 2024; 15(10):1289. https://doi.org/10.3390/genes15101289

Chicago/Turabian Style

Fałek, Olga, Dorota Wesół-Kucharska, Ewa Starostecka, Dariusz Rokicki, Katarzyna Fortecka-Piestrzeniewicz, Łukasz Kępczyński, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, and Iwona Maroszyńska. 2024. "Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy" Genes 15, no. 10: 1289. https://doi.org/10.3390/genes15101289

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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

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