TY - JOUR AU - Begliuomini, Chiara AU - Magli, Giorgio AU - Di Rocco, Maja AU - Santorelli, Filippo M. AU - Cassandrini, Denise AU - Nesti, Claudia AU - Deodato, Federica AU - Diodato, Daria AU - Casellato, Susanna AU - Simula, Delia M. AU - Dessì, Veronica AU - Eusebi, Anna AU - Carta, Alessandra AU - Sotgiu, Stefano PY - 2019 DA - 2019/05/07 TI - VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype JO - BMC Medical Genetics SP - 77 VL - 20 IS - 1 AB - Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a nuclear gene encoding for valyl-tRNA (Val-tRNA) synthetase, are associated to several forms of mitochondrial encephalopathies or cardiomyoencephalopathies. Among these, the rare homozygous c.1100C > T (p.Thr367Ile) mutation variably presents with progressive developmental delay, axial hypotonia, limbs spasticity, drug-resistant epilepsy leading, in some cases, to premature death. Yet only six cases, of which three are siblings, harbouring this homozygous mutation have been described worldwide. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-019-0798-7 DO - 10.1186/s12881-019-0798-7 ID - Begliuomini2019 ER -