Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Diabetic medicine : a journal of the British Diabetic Association - 1 Sept 2016

Yew T W, McCreight L, Colclough K, Ellard S, Pearson E R

Abstract excerpt

BACKGROUND: A syndrome of young-onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT10A mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT10A...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diabetes Mellitus, Type 2
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Insulin Resistance

Share to Intellectual Disability

Share to Methyltransferases

Share to Microcephaly

Share to Pedigree

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 26526202
DOI: 10.1111/dme.13024
PMCID: PMC4995728

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.PMID 26526202Read ↗

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

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.Semantic proximity Read ↗

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.Semantic proximity Read ↗

TRMT10A-Related Neurodevelopmental Disorder Without Metabolic Findings.Semantic proximity Read ↗

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic KidneysSemantic proximity Read ↗

A rare syndrome: Microcephaly, diabetes mellitus, and epilepsy due to homozygous TRMT10A mutation.Semantic proximity Read ↗

Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetesSemantic proximity Read ↗

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.Semantic proximity Read ↗

Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.Semantic proximity Read ↗

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesSemantic proximity Read ↗

Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.Semantic proximity Read ↗

TRMT10A deficiency and tRNA fragmentation disrupt human pancreatic β-cell identity and insulin maturationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.