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Table 2 Cases with TARS2 mutations including reported and the case in our study

From: Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

Pedigree

patient

Clincal phenotype

Pathogenic mutation

Reference

Family 1

Two siblings (Female/Male)

Axial hypotonia, limb hypertonia, psychomotor delay, high levels of blood lactate, both died a few months after birth of a metabolic crisis

NM_025150.4:c.845C> T(p.Pro282Leu), Maternal / NM_025150.4:c.695 + 3A > G, Paternal

[12]

Family 2

Not available

Hypotonia, cerebellar atrophy, psychomotor delay, and increased blood‐lactate

Not available

[20]

Family 3

Male

Limb hypertonia, epilepsy, psychomotor delay, and high levels of blood lactate

NM_025150.4:c.470C > (p. Thr157Arg), Maternal / c.2143G > A p. Glu715Lys, Paternal

[This Study]