Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

George K Papadimas; Efthimia Vargiami; Pinelopi Dragoumi; Rudy Van Coster; Joel Smet; Sara Seneca; Constantinos Papadopoulos; Evangelia Kararizou; Dimitrios Zafeiriou

doi:10.36185/2532-1900-012

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

George K Papadimas, Efthimia Vargiami, Pinelopi Dragoumi, Rudy Van Coster, Joel Smet, Sara Seneca, Constantinos Papadopoulos, Evangelia Kararizou, Dimitrios Zafeiriou

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2 Citations (Scopus)

Abstract

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS.

Original language	English
Pages (from-to)	94-97
Number of pages	4
Journal	Acta myologica
Volume	39
Issue number	2
DOIs	https://doi.org/10.36185/2532-1900-012
Publication status	Published - Jun 2020

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Keywords

TK2
mtDNA depletion syndrome

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title = "Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene",

abstract = "The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS.",

keywords = "TK2, mtDNA depletion syndrome",

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Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene. / Papadimas, George K; Vargiami, Efthimia; Dragoumi, Pinelopi; Van Coster, Rudy; Smet, Joel; Seneca, Sara; Papadopoulos, Constantinos; Kararizou, Evangelia; Zafeiriou, Dimitrios.

In: Acta myologica, Vol. 39, No. 2, 06.2020, p. 94-97.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

AU - Papadimas, George K

AU - Vargiami, Efthimia

AU - Dragoumi, Pinelopi

AU - Van Coster, Rudy

AU - Smet, Joel

AU - Seneca, Sara

AU - Papadopoulos, Constantinos

AU - Kararizou, Evangelia

AU - Zafeiriou, Dimitrios

PY - 2020/6

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N2 - The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS.

AB - The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS.

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DO - 10.36185/2532-1900-012

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VL - 39

SP - 94

EP - 97

JO - Acta myologica

JF - Acta myologica

SN - 1128-2460

IS - 2

ER -

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

Abstract

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