1. Severe progressive brain involvement in a patient with TRMT10C mutation
- Author
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Clara Gontijo Camelo, Vinicius Scaramuzzi, Edmar Zanoteli, Antônio José da Rocha, Cristiane de Araújo Martins Moreno, André Macedo Serafim da Silva, and Umbertina Conti Reed
- Subjects
Mutation ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,RNase P ,business.industry ,Hearing loss ,Mitochondrial disease ,Neurosciences. Biological psychiatry. Neuropsychiatry ,medicine.disease ,medicine.disease_cause ,Biceps ,Hypotonia ,Neurology ,Biopsy ,medicine ,Neurology (clinical) ,medicine.symptom ,business ,Motor deterioration ,RC321-571 - Abstract
A 2-month-old girl presented hypotonia, followed by progressive cognitive and motor deterioration, pyramidal signs, hearing loss, refractory epilepsy, and high serum lactate level. A biceps brachii biopsy presented cytochrome c oxidase negative fibers, and serial brain magnetic resonance imaging (MRI) showed progressive brain involvement (). Whole-exome sequencing showed the homozygous pathogenic variant c.542G>T (p.Arg181Leu) in TRMT10C. The nuclear gene TRMTC10C encodes RNase P protein responsible for mt-tRNA maturation and causes an autosomal recessive mitochondrial disease. To our knowledge, variants in [...]
- Published
- 2021