Table 1 Reported DNA2 variants and related phenotypes
From: DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance
Variant | NM | Amino acid alteration | Zygosity status | Phenotype | Reference |
|---|---|---|---|---|---|
c.2368C > T | NM_001080449.2 | p.Q790X | Heterozygous | Profound sensorineural hearing loss and muscle weakness | Present study |
c.1764-38_1764-37 ins (53) | NM_001080449.2 | p.Ser588Argfs*4 | Homozygous | Microcephalic primordial dwarfism | Tarnauskaitė (2019) [28] |
c.74 + 4A > C | NM_001080449.2 | Homozygous | Microcephalic primordial dwarfism | Tarnauskaitė (2019) [28] | |
c.1963A > G | NM_001080449.2 | p.Thr655Ala | Heterozygous | Microcephalic primordial dwarfism | Tarnauskaitė (2019) [28] |
c.1919C > T | NM_001080449.2 | p.Ser640Leu | Heterozygous | Ptosis, arterial hypertension, essential tremor, cataract, and diabetes | Ronchi (2019) [6] |
c.2867G > A | NM_001080449.2 | p.Arg956His | Heterozygous | Progressive limb-girdle muscle weakness, lower limb hypotonia, and exercise intolerance | Ronchi (2019) [6] |
c.1655C > T | NM_001080449.2 | p.Ser552Leu | Heterozygous | Ptosis | Ronchi (2019) [6] |
c.662C > G | NM_001080449.2 | p.Ala221Gly | Heterozygous | Remitting multiple sclerosis and ptosis | Ronchi (2019) [6] |
c.2346delT | p.Phe782Leufs*3 | Heterozygous | Myopathy associated with ptosis, velopharyngeal weakness, and cardiac involvement | Angel (2019) [21] | |
c.578T > C | p.Leu193Ser | Heterozygous | Rhabdomyolysis unmasking a mitochondrial disease characterized by a sensorineural hearing loss, ptosis, and lipomas | Angel (2019) [21] | |
c.1703delA | p.Asn568Ilefs*4 | Heterozygous | Congenital onset myopathy and ptosis | Phowthongkum (2017) [19] | |
c.1888C > T | NM_001080449.2 | p.Gln630X | Heterozygous | Multiple congenital joint contractures and hypotonia | Chae (2015) [27] |
c.3114 + 6delC (c.3372 + 6delC) | NM_001080449.2 | p.Val1065Ilefs*23 | Homozygous | Seckel syndrome | Shaheen (2014) [26] |
c.851G > A | NM_001080449.1 | p.Arg284His | Heterozygous | Decreased facial expressions, moderate diffuse muscle atrophy, relatively mild muscle weakness, an anserine gait with dorsolumbar hyperlordosis, and Gowers’ sign | Ronchi (2013) [5] |
c.937A > G | p.Lys313Glu | Heterozygous | Ptosis and progressive myopathy with occasional exertional dyspnea | Ronchi (2013) [5] | |
c.2167G > A | p.Val723Ile | Heterozygous | Ptosis and progressive myopathy with occasional exertional dyspnea | Ronchi (2013) [5] |
