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TRMT10A-Related Neurodevelopmental Disorder Without Metabolic Findings
Döndü Ülker Üstebay1, İrem Aksu Şahin2, Sefer Üstebay3
1Department of Pediatric Neurology, Faculty of Medicine, Bandırma Onyedi Eylül University, Balıkesir, Türkiye, bandirma.edu.tr.
Human Mutation
|May 25, 2026
Summary
This study details a rare case of TRMT10A-related syndrome in a 15-year-old male with microcephaly and epilepsy, highlighting the importance of early diagnosis before metabolic complications arise.
Area of Science:
- Genetics
- Neuroscience
- Endocrinology
Background:
- TRMT10A gene mutations cause a rare autosomal recessive disorder with diverse symptoms.
- Phenotypic variability and genotype-phenotype correlations in TRMT10A-related syndrome are not fully understood.
Purpose of the Study:
- To report a novel case of TRMT10A-related syndrome.
- To highlight the phenotypic spectrum and genotype-phenotype correlations.
- To emphasize the importance of early diagnosis and monitoring for metabolic complications.
Main Methods:
- Case report of a 15-year-old male with developmental delay, epilepsy, and microcephaly.
- Exome sequencing to identify pathogenic variants in TRMT10A.
- Sanger sequencing for variant confirmation and segregation analysis.
Main Results:
- A homozygous stop-gained pathogenic variant (c.127C>T; p.Arg43Ter) in TRMT10A was identified.
- The patient presented with microcephaly, intellectual disability, epilepsy, and short stature, but no diabetes.
- The identified variant segregated with the disorder in the family, consistent with autosomal recessive inheritance.
Conclusions:
- This case expands the known phenotypic spectrum of TRMT10A-related syndrome.
- Early diagnosis is crucial for anticipating and managing potential metabolic complications like diabetes.
- TRMT10A should be considered in the differential diagnosis of unexplained microcephaly, intellectual disability, epilepsy, and growth abnormalities.
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