Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Julia Wang; Emily Kim; Honzheng Dai; Vikki Stefans; Hannes Vogel; Fatma Al Jasmi; Samantha A. Schrier Vergano; Diana Castro; Saunder Bernes; Vikas Bhambhani; Catherine Long; Ayman W. El-Hattab; Lee Jun Wong

doi:10.1016/j.ymgme.2018.04.012

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Julia Wang, Emily Kim, Honzheng Dai, Vikki Stefans, Hannes Vogel, Fatma Al Jasmi, Samantha A. Schrier Vergano, Diana Castro, Saunder Bernes, Vikas Bhambhani, Catherine Long, Ayman W. El-Hattab, Lee Jun Wong

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

30 Scopus citations

Abstract

Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants. Here we are reporting 11 new cases with 5 novel pathogenic variants. We describe and analyze a total of 82 cases with 47 unique TK2 pathogenic variants in effort to formulate a comprehensive molecular and clinical spectrum of TK2-related mtDNA maintenance disorders.

Original language	English (US)
Pages (from-to)	124-130
Number of pages	7
Journal	Molecular genetics and metabolism
Volume	124
Issue number	2
DOIs	https://doi.org/10.1016/j.ymgme.2018.04.012
State	Published - Jun 2018

Keywords

Adult-onset
Early-onset
Mitochondrial DNA maintenance syndrome
Thymidine kinase 2

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2018.04.012

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abstract = "Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants. Here we are reporting 11 new cases with 5 novel pathogenic variants. We describe and analyze a total of 82 cases with 47 unique TK2 pathogenic variants in effort to formulate a comprehensive molecular and clinical spectrum of TK2-related mtDNA maintenance disorders.",

keywords = "Adult-onset, Early-onset, Mitochondrial DNA maintenance syndrome, Thymidine kinase 2",

author = "Julia Wang and Emily Kim and Honzheng Dai and Vikki Stefans and Hannes Vogel and {Al Jasmi}, Fatma and {Schrier Vergano}, {Samantha A.} and Diana Castro and Saunder Bernes and Vikas Bhambhani and Catherine Long and El-Hattab, {Ayman W.} and Wong, {Lee Jun}",

note = "Funding Information: JW is supported by the McNair Student Scholars program and Baylor College of Medicine Medical Scientist Training Program. Funding Information: JW is supported by the McNair Student Scholars program and Baylor College of Medicine Medical Scientist Training Program . Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",

year = "2018",

month = jun,

doi = "10.1016/j.ymgme.2018.04.012",

language = "English (US)",

volume = "124",

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AU - Wang, Julia

AU - Kim, Emily

AU - Dai, Honzheng

AU - Stefans, Vikki

AU - Vogel, Hannes

AU - Al Jasmi, Fatma

AU - Schrier Vergano, Samantha A.

AU - Castro, Diana

AU - Bernes, Saunder

AU - Bhambhani, Vikas

AU - Long, Catherine

AU - El-Hattab, Ayman W.

AU - Wong, Lee Jun

N1 - Funding Information: JW is supported by the McNair Student Scholars program and Baylor College of Medicine Medical Scientist Training Program. Funding Information: JW is supported by the McNair Student Scholars program and Baylor College of Medicine Medical Scientist Training Program . Publisher Copyright: © 2018 Elsevier Inc.

PY - 2018/6

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N2 - Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants. Here we are reporting 11 new cases with 5 novel pathogenic variants. We describe and analyze a total of 82 cases with 47 unique TK2 pathogenic variants in effort to formulate a comprehensive molecular and clinical spectrum of TK2-related mtDNA maintenance disorders.

AB - Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants. Here we are reporting 11 new cases with 5 novel pathogenic variants. We describe and analyze a total of 82 cases with 47 unique TK2 pathogenic variants in effort to formulate a comprehensive molecular and clinical spectrum of TK2-related mtDNA maintenance disorders.

KW - Adult-onset

KW - Early-onset

KW - Mitochondrial DNA maintenance syndrome

KW - Thymidine kinase 2

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Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Abstract

Keywords

ASJC Scopus subject areas

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