Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Human Mutation

Volumn 38, Issue 5, 2017, Pages 511-516

  Kernohan, Kristin D ^a   Dyment, David A ^a   Pupavac, Mihaela ^b   Cramer, Zvi ^b   McBride, Arran ^a   Bernard, Genevieve ^b   Straub, Isabella ^b   Tetreault, Martine ^b   Hartley, Taila ^a   Huang, Lijia ^a   Sell, Erick ^a   Majewski, Jacek ^b   Rosenblatt, David S ^b   Shoubridge, Eric ^b   Mhanni, Aziz ^c   Myers, Tara ^d   Proud, Virginia ^e   Vergano, Samanta ^e   Spangler, Brooke ^e   Farrow, Emily ^d,f   Kussman, Jennifer ^d   Safina, Nicole ^d   Saunders, Carol ^d,f   Boycott, Kym M ^a   Thiffault, Isabelle ^d,f   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

^d CHILDREN S MERCY HOSPITAL   (United States)

^e CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^f UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

brain anomalies; developmental disorders; epilepsy; intellectual disability; TRIT1; tRNA

Indexed keywords

CYTOCHROME C OXIDASE; MESSENGER RNA; MITOCHONDRIAL PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA; TRANSFER RNA ISOPENTENYLTRANSFERASE 1; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; TRANSFERASE; TRIT1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; BRAIN DISEASE; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; FEMALE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MYOCLONUS EPILEPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REAL TIME POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SCHOOL CHILD; ALLELE; BRAIN; CASE REPORT; DIAGNOSTIC IMAGING; FACIES; GENETIC SCREENING; GENETICS; HOMOZYGOTE; MITOCHONDRIAL DISEASES; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE; RECESSIVE GENE;

ADOLESCENT; ALKYL AND ARYL TRANSFERASES; ALLELES; BRAIN; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; GENES, RECESSIVE; GENETIC TESTING; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE;

EID: 85018193381     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23196     Document Type: Article

References (17)

1. Buske, O. J., Girdea, M., Dumitriu, S., Gallinger, B., Hartley, T., Trang, H., … Brudno, M. (2015a). PhenomeCentral: A portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. Human Mutation, 36(10), 931–940.
2. Buske, O. J., Schiettecatte, F., Hutton, B., Dumitriu, S., Misyura, A., Huang, L., … Brudno, M. (2015b). The Matchmaker Exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles. Human Mutation, 36(10), 922–927.
3. Chatzimichali, E. A., Brent, S., Hutton, B., Perrett, D., Wright, C. F., Bevan, A. P., … Swaminathan, G. J. (2015). Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. Human Mutation, 36(10), 941–949.
4. Falk, M. J., Shen, L., Gonzalez, M., Leipzig, J., Lott, M. T., Stassen, A. P., … Wong, L.-J. (2015). Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics and Metabolism, 114(3), 388–396.
5. Guy, M. P., Shaw, M., Weiner, C. L., Hobson, L., Stark, Z., Rose, K., … Phizicky, E. M. (2015). Defects in tRNA anticodon loop 2′-O-methylation are implicated in nonsyndromic X-linked intellectual disability due to mutations in FTSJ1. Human Mutation, 36(12), 1176–1187.
6. Hunter, J. E., Irving, S. A., Biesecker, L. G., Buchanan, A., Jensen, B., Lee, K., … Goddard, K. A. (2016). A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genetics in Medicine, 18(12), 1258–1268.
7. Igoillo-Esteve, M., Genin, A., Lambert, N., Desir, J., Pirson, I., Abdulkarim, B., … Cnop, M. (2013). tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genetics, 9(10), e1003888.
8. Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., … Rehm, H. L. (2015). The Matchmaker Exchange: A platform for rare disease gene discovery. Human Mutation, 36(10), 915–921.
9. Powell, C. A., Nicholls, T. J., & Minczuk, M. (2015). Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease. Frontiers in Genetics, 6, 79.
10. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424.
11. Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015). GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Human Mutation, 36(10), 928–930.
12. Sofou, K., Kollberg, G., Holmstrom, M., Davila, M., Darin, N., Gustafsson, C. M., … Asin-Cayuela, J. (2015). Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Molecular Genetics & Genomic Medicine, 3(1), 59–68.
13. Thiffault, I., & Lantos, J. (2016). The challenge of analyzing the results of next-generation sequencing in children. Pediatrics, 137 Suppl 1, S3–S7.
14. Torres, A. G., Batlle, E., & Ribas de Pouplana, L. (2014). Role of tRNA modifications in human diseases. Trends in Molecular Medicine, 20(6), 306–314.
15. Wortmann, S. B., Koolen, D. A., Smeitink, J. A., van den Heuvel, L., & Rodenburg, R. J. (2015). Whole exome sequencing of suspected mitochondrial patients in clinical practice. Journal of Inherited Metabolic Disease, 38(3), 437–443.
16. Yarham, J. W., Lamichhane, T. N., Pyle, A., Mattijssen, S., Baruffini, E., Bruni, F., … Taylor, R. W. (2014). Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS Genetics, 10(6), e1004424.
17. Zung, A., Kori, M., Burundukov, E., Ben-Yosef, T., Tatoor, Y., & Granot, E. (2015). Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus. American Journal of Medical Genetics Part A, 167A(12), 3167–3173.