ArticleF1000Research2015
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
Article in F1000Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Genotype-phenotype variability in TRMT10A deficiency: divergent developmental outcomes associated with biallelic loss-of-function variants.Journal of human genetics · 2026Article
- Molecular basis of tRNA substrate recognition and modification by the atypical SPOUT methyltransferase Trm10.Nucleic acids research · 2026Article
- TRMT10A maintains lipid homeostasis independently of its tRNA mScience China. Life sciences · 2026Article
- Article
- TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice.Nucleic acids research · 2024Article
- A tRNA-specific function for tRNA methyltransferase Trm10 is associated with a new tRNA quality control mechanism inRNA (New York, N.Y.) · 2024Article
- dTrmt10A impacts Hsp70 chaperone mScientific reports · 2023Article
- Diversity in Biological Function and Mechanism of the tRNA Methyltransferase Trm10.Accounts of chemical research · 2023Article
- tRNA mbioRxiv : the preprint server for biology · 2023Article
- Expanding the Phenotype ofJournal of clinical research in pediatric endocrinology · 2023Article
- Article
- tRNA Biology in the Pathogenesis of Diabetes: Role of Genetic and Environmental Factors.International journal of molecular sciences · 2021Review
- tRNA methyltransferase 10 homologue A (BMJ open diabetes research & care · 2020Article
- Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B.Nucleic acids research · 2020Article
- Coordination of mRNA and tRNA methylations by TRMT10A.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.Human mutation · 2020Article
- Matching tRNA modifications in humans to their known and predicted enzymes.Nucleic acids research · 2019Article
- Impact of tRNA Modifications and tRNA-Modifying Enzymes on Proteostasis and Human Disease.International journal of molecular sciences · 2018Review
- Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.Nucleic acids research · 2018Article
- De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.Brain : a journal of neurology · 2018Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such prenatal or perinatal brain injury (congenital infection or hypoxic ischemic encephalopathy), or be a part of a genetic syndrome. There are over 1000 conditions listed in OMIM (Online Mendelian Inheritance in Man) where microcephaly is a key finding; many of these are associated with specific somatic features and non-CNS anomalies. The term primary microcephaly is used when microcephaly and delayed development are the primary features, and they are not part of another recognized syndrome. In this case report, we present the clinical features of siblings (brother and sister) with primary microcephaly and delayed development, and subtle dysmorphic features. Both children had brain MRI studies that showed periventricular and subcortical T2/FLAIR hyperintensities, without signs of white matter volume loss, and no parenchymal calcifications by CT scan. The family was enrolled in a research study for whole exome sequencing of probands and parents. Analysis of variants determined that the children were compound heterozygotes for nonsense mutations, c.277C>T (p.Arg93*) and c.397C>T (p.Arg133*), in the TRMT10A gene. Mutations in this gene have only recently been reported in children with microcephaly and early onset diabetes mellitus. Our report adds to current knowledge of TRMT10A related neurodevelopmental disorders and demonstrates imaging findings suggestive of delayed or abnormal myelination of the white matter in this disorder. Accurate diagnosis through genomic testing, as in the children described here, allows for early detection and management of medical complications, such as diabetes mellitus.
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