Severe microcephalyGene: TRMT10A
Comment on list classification: Updated rating from Red to Green: 4 cases plus a deletion including TRMT10A (PMID:26297882). Degree of microcephaly varies between patients. Microcephaly as the primary feature is recorded in at least 2 of the papers.
28 Feb 2017, 11:07 a.m.
PMID:26535115 (Narayanan et al., 2015) present a brother and sister with primary microcephaly and delayed development. The children were compound heterozygotes for nonsense mutations, c.277C>T (p.Arg93*) and c.397C>T (p.Arg133*), in the TRMT10A gene.
28 Feb 2017, 11:04 a.m.
PMID:26526202 (Yew et al., 2016) report 2 siblings from a family with a homozygous GLu27Ter TRMT10A mutation. Mild microcephaly was present at birth but their final head circumferences were normal.
28 Feb 2017, 11:03 a.m.
PMID: 26297882 (Zung et al., 2015) investigated a 17-year-old female born to first-cousin parents of Muslim origin. The girl with a homozygous contiguous gene deletion in 4q23 involving the TRMT10A gene. From infancy, she presented with failure to thrive and microcephaly. RT-PCR and Western blot analysis demonstrated a complete abolishment of TRMT10A mRNA and its translated protein. The extent of the deletion is unclear, and includes the neighbouring MTTP gene.
28 Feb 2017, 11:03 a.m.
The first 2 cases are reported in Igoillo-Esteve, 2013 (PMID:25053765) and Gillis 2014 (PMID:24204302).
28 Feb 2017, 11:01 a.m.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Phenotypes for TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1; 616033; MSSGM1; primary microcephaly
Publications for TRMT10A were set to 24204302; 25053765; 26297882; 26526202; 26535115
This gene has been classified as Green List (High Evidence).
TRMT10A was created by rfoulger
TRMT10A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other