Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome
| Autor: | Tsz-ki Ling, Chun-yiu Law, Ching-Wan Lam, Ka-chung Wong, WL Yeung |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Microcephaly Mitochondrial DNA Mitochondrial Diseases In silico Clinical Biochemistry Biology Biochemistry DNA Mitochondrial 03 medical and health sciences 0302 clinical medicine Deoxythymidylate kinase Exome Sequencing medicine Humans Child Gene Exome sequencing Genetics Siblings Biochemistry (medical) Infant General Medicine medicine.disease Hypotonia 030104 developmental biology 030220 oncology & carcinogenesis Mitochondrial DNA depletion syndrome medicine.symptom Nucleoside-Phosphate Kinase |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 496 |
| ISSN: | 1873-3492 |
| Popis: | Background Mitochondrial DNA depletion syndrome is a group of heterogeneous diseases with non-specific presentation. The common feature is the quantitative depletion of mitochondrial DNA without qualitative defects. Diagnosis of these diseases poses a challenge and whole exome sequencing is often needed for their diagnoses. Case Two siblings of a quartet family, presenting with hypotonia, microcephaly and severe intellectual disability, have been diagnosed to harbor two heterozygous variants in trans in the DTYMK gene of the thymidine biosynthesis pathway. Mitochondrial DNA depletion has been demonstrated in silico in the more severe sibling. Conclusions We suggest the consideration of incorporating DTYMK as one of the associated genes of mitochondrial DNA depletion syndrome (MDDS). DTYMK may be the missing link in the mitochondrial nucleotide salvage pathway but further characterization and additional evidence would be needed. |
| Databáze: | OpenAIRE |
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