Research & Literature

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.

Zung A, Kori M, Burundukov E, et al.

American journal of medical genetics. Part A 2015; (167A(12)):3167-73 doi:10.1002/ajmg.a.37341.

Pharmacological interventions for epilepsy in people with intellectual disabilities.

Jackson CF, Makin SM, Marson AG, Kerr M

The Cochrane database of systematic reviews 2015; CD005399 doi:10.1002/14651858.CD005399.pub3.

Delivery of epilepsy care to adults with intellectual and developmental disabilities.

Devinsky O, Asato M, Camfield P, et al.

Neurology 2015; (85(17)):1512-21 doi:10.1212/WNL.0000000000002060.

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.

Yew TW, McCreight L, Colclough K, et al.

Diabetic medicine : a journal of the British Diabetic Association 2016; (33(9)):e21-5 doi:10.1111/dme.13024.

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

Narayanan M, Ramsey K, Grebe T, et al.

F1000Research 2015; (4()):912 doi:10.12688/f1000research.7106.1.

Diabetic emergencies - ketoacidosis, hyperglycaemic hyperosmolar state and hypoglycaemia.

Umpierrez G, Korytkowski M

Nature reviews. Endocrinology 2016; (12(4)):222-32 doi:10.1038/nrendo.2016.15.

Intellectual Disability and Language Disorder.

Marrus N, Hall L

Child and adolescent psychiatric clinics of North America 2017; (26(3)):539-554 doi:10.1016/j.chc.2017.03.001.

Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome.

Stoyle G, Banka S, Langley C, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()) doi:10.1530/EDM-18-0085.

Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.

Cosentino C, Toivonen S, Diaz Villamil E, et al.

Nucleic acids research 2018; (46(19)):10302-10318 doi:10.1093/nar/gky839.

From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes.

De Franco E

Journal of molecular biology 2020; (432(5)):1535-1550 doi:10.1016/j.jmb.2019.08.016.

Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B.

Vilardo E, Amman F, Toth U, et al.

Nucleic acids research 2020; (48(11)):6157-6169 doi:10.1093/nar/gkaa353.

Diabetic ketoacidosis.

Dhatariya KK, Glaser NS, Codner E, Umpierrez GE

Nature reviews. Disease primers 2020; (6(1)):40 doi:10.1038/s41572-020-0165-1.

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.

Lin H, Zhou X, Chen X, et al.

BMJ open diabetes research & care 2020; (8(1)) doi:10.1136/bmjdrc-2020-001601.

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

Stern E, Vivante A, Barel O, Levy-Shraga Y

Journal of clinical research in pediatric endocrinology 2022; (14(2)):227-232 doi:10.4274/jcrpe.galenos.2020.2020.0265.

Disproportionate Representation of Children of Color and Parents with Disabilities in the Child Welfare System: The Intersection of Race/Ethnicity, Immigration Status, and Disability.

Loe IM, Buysse CA, deBlank M, et al.

Journal of developmental and behavioral pediatrics : JDBP 2021; (42(6)):512-514 doi:10.1097/DBP.0000000000000989.

Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

Şıklar Z, Kontbay T, Colclough K, et al.

Journal of clinical research in pediatric endocrinology 2023; (15(1)):90-96 doi:10.4274/jcrpe.galenos.2021.2021.0110.

A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

Söbü E, Kaya Özçora GD, Yılmaz Güleç E, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(3)):344-350 doi:10.4274/jcrpe.galenos.2022.2022-8-12.

Childhood Neurologic Conditions: Epilepsy Management.

Nickels K

FP essentials 2022; (523()):15-19.

Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.

Carrera P, Marzinotto I, Bonfanti R, et al.

Diabetologia 2023; (66(4)):695-708 doi:10.1007/s00125-022-05865-5.

Diabetic Ketoacidosis in Children and Adolescents; Diagnostic and Therapeutic Pitfalls.

Kostopoulou E, Sinopidis X, Fouzas S, et al.

Diagnostics (Basel, Switzerland) 2023; (13(15)) doi:10.3390/diagnostics13152602.

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.

Murphy R, Colclough K, Pollin TI, et al.

Communications medicine 2023; (3(1)):136 doi:10.1038/s43856-023-00369-8.

Effectiveness of interventions for emergency care of hypoglycaemia and diabetic ketoacidosis: A systematic review.

Maharjan J, Pandit S, Arne Johansson K, et al.

Diabetes research and clinical practice 2024; (207()):111078 doi:10.1016/j.diabres.2023.111078.

TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice.

Tresky R, Miyamoto Y, Nagayoshi Y, et al.

Nucleic acids research 2024; (52(15)):9230-9246 doi:10.1093/nar/gkae520.

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.

Anitei M, Bruno F, Valkova C, et al.

Cellular and molecular life sciences : CMLS 2024; (81(1)):334 doi:10.1007/s00018-024-05386-x.

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

Samhani C, Guerci B, Larose C

Diabetes & metabolism 2024; (50(6)):101572 doi:10.1016/j.diabet.2024.101572.

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

Ceraolo G, Spoto G, Butera A, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2025; (198(3)):e33015 doi:10.1002/ajmg.b.33015.

Care of Infants and Children With Down Syndrome: Role of the Family Physician.

Bunt CW, Bunt SK

American family physician 2025; (111(3)):236-244.

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

Myers R, Yildiz M, Nuri Ozbek M, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(2)):e362-e367 doi:10.1210/clinem/dgaf430.

Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review.

Jelti H, Khabbache K, Bouressas S, et al.

Balkan journal of medical genetics : BJMG 2025; (28(1)):20250006 doi:10.2478/bjmg-2025-0006.

Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients.

Lee L, Tang AF, Asako A, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.03.31.26349885.

TRMT10A-Related Neurodevelopmental Disorder Without Metabolic Findings.

Ülker Üstebay D, Aksu Şahin İ, Üstebay S, et al.

Human mutation 2026; (2026()):8058409 doi:10.1155/humu/8058409.

Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.

Elliott J, Ahmadi S, Yu-Wai-Man P, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.07.02.26357130.

TRMT10A maintains lipid homeostasis independently of its tRNA m1G9 methyltransferase activity.

Sun H, Wang Y, Liu S, et al.

Science China. Life sciences 2026; doi:10.1007/s11427-025-3385-2.

Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl with EP300-mutated Rubinstein-Taybi syndrome.

Dai H, Gan D

Frontiers in pediatrics 2026; (14()):1884354 doi:10.3389/fped.2026.1884354.