小头畸形
表型
遗传学
转移RNA
等位基因
癫痫
生物
线粒体
医学
基因
神经科学
核糖核酸
作者
Thomas Smol,Perrine Brunelle,Roseline Caumes,Odile Boute-Bénéjean,C. Thuillier,Martin Figeac,Emilie Ait‐Yahya,Fabrice Bonte,Frédéric Tran Mau‐Them,Christel Thauvin‐Robinet,Laurence Faivre,Catherine Roche‐Lestienne,Sylvie Manouvrier‐Hanu,Florence Petit,Jamal Ghoumid
标识
DOI:10.1016/j.ejmg.2022.104603
摘要
TRIT1 encodes a tRNA isopentenyl transferase that allows a strong interaction between the mini helix and the codon. Recent reports support the TRIT1 bi-allelic alterations as the cause of an autosomal recessive disorder, named combined oxydative phophorylation deficiency 35, with microcephaly, developmental disability, and epilepsy. The phenotype is due to decreased mitochondrial function, with deficit of i6A37 in cytosolic and mitochondrial tRNA. Only 10 patients have been reported. We report on two new patients with four novel variants, and confirm the published clinical TRIT1 deficient phenotype stressing the possibility of both very severe, with generalized pharmaco-resistant seizures, and mild phenotypes.
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