Summary of all cases (n=32)
| Patient | Ethnicity | Onset/current age (year) | SNHL | DD | FTT | MC | Sz | Tone | Renal | HTN | Cardiac | ↑ Lact | MRC deficiency (muscle) | RMND1 mutation (cDNA/aa change) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (F) | Italian | At birth/4 | + | + | + | + | + | C | CD, RTA, ESRF, A | + | − | + | CIV | c.713A>G p.(Asn238Ser); c.1303C>T p.(Leu435Phe) |
| 2 (M) | Caucasian | 0.17/10.4 | + | + | − | n.s. | − | C | ESRF | + | HCM | + | CIV | c.713A>G p.(Asn238Ser); c.565C>T p.(Gln189*) |
| 3 (F) | Irish | At birth/*3.1 | + | + | + | + | − | Normal | RTA, ESRF | + | HCM, PDA, PT | + | CI, CIV | c.713A>G p.(Asn238Ser); c.533C>A p.(Thr178Lys) |
| 4.1 (M) | Caucasian | 0.5/8 | + | + | − | − | + | C, P | − | − | − | − | n.d. | Homozygous c.713A>G p.(Asn238Ser) |
| 4.2 (M) | Caucasian | At birth/6 | + | + | − | − | + | C, P | − | − | − | − | n.d. | Homozygous c.713A>G p.(Asn238Ser) |
| 5 (F) | Caucasian, native American | At birth/9 | + | + | + | + | + | C, P | CD, ESRF, Tx | + | − | + | n.d. | Homozygous c.713A>G p.(Asn238Ser) |
| 6 (M) | European, Mexican | At birth/7.67 | + | + | + | − | − | C | CD, RTA, ESRF, Tx | + | Mild LVH | + | CI, CIII, CIV | c.713A>G p.(Asn238Ser); c.1317+1G>T, p.? |
| 7.1 (F) | Caucasian | 1/11 | + | + | − | − | − | Normal | CKD stage 2, A | − | − | MA | n.d. | c.713A>G p.(Asn238Ser); c.1250G>A p.(Arg417Gln) |
| 7.2 (F) | Caucasian | 1/8 | + | + | − | − | − | Normal | CKD stage 3, A | − | − | MA | n.d. | c.713A>G p.(Asn238Ser); c.1250G>A p.(Arg417Gln) |
| 8 (F) | Caucasian | At birth/3.75 | + | + | + | + | + | Normal | RTA, CKD stage 4 | + | Normal | + | CIV | c.631G>A p.(Val211Met); c.830+1G>A p.(Met244Glyfs*20) |
| 9 (M) | Pakistan | 0.11/*6 | + | + | + | + | + | C | RTA, CKD | + | HB | + | n.d. | Homozygous c.1349G>C p.(*450Serext*31) |
| 10.1 (F) | Bangladesh | 0.3/*0.94 | + | + | + | − | − | C | RTA, ESRF, A | + | Pericardial effusion, HB | + | CI, CIV | Homozygous c.1349G>C p.(*450Serext*31) |
| 10.2 (F) | Bangladesh | 0.75/*3 | + | + | +. | − | − | C | RTA, ESRF, A | + | HB and had PPM | + | n.d. | Homozygous c.1349G>C p.(*450Serext*31) |
| 11.1 (F) | Pakistan | 0.67/*1.33 | + | + | + | + | − | C | CD (autopsy) | − | HB | + | n.d. | Homozygous c.1349G>C p.(*450Serext*31) |
| 11.2 (F) | Pakistan | 0.25/*1 | + | + | + | + | − | C | RTA, A | − | Normal | + | CI, CIV | Homozygous c.1349G>C p.(*450Serext*31) |
| 12 (F) | Pakistan | 1.5/*6.67 | + | + | + | + | − | C | CD, RTA, ESRF | n.s. | DCM | − | CI, CIII, CIV | Homozygous c.1349G>C p.(*450Serext*31) |
| 13 (F) | Pakistan | 0.5/*0.53 | + | + | + | + | − | C | RTA | + | Small VSD, HB | + | CI, CIII, CIV | Homozygous c.1349G>C p.(*450Serext*31) |
| 14 (M) | Pakistan | 0.5/*5.8 | + | + | + | − | − | C | CD, RTA, ESRF | + | HB | + | CI, CIII, CIV | Homozygous c.1349G>C p.(*450Serext*31) |
| 15 (F) | Pakistan | 0.08/*2 | + | + | + | + | − | C | CD, ESRF | n.s. | HB | − | CI, CIII, CIV | Homozygous c.1349G>C p.(*450Serext*31) |
| 16 (F) | Irish | 0.11/*3.4 | + | + | + | + | + | P | RTA, CKD stage 4 | + | − | + | CI, CIV | c.713A>G p.(Asn238Ser); c.829_830+2het_delGAGT p.? |
| 17.1 (M) | Sudanese | At birth/*0.92 | − | + | n.s. | + | + | C,P | − | − | − | + | CI, CIII, CIV | Homozygous c.1250G>A p.(Arg417Gln) |
| 17.2 (M) | Sudanese | At birth/*4 days | − | n.s. | n.s | n.s. | + | C, P | − | − | − | + | n.d. | Homozygous c.1250G>A p.(Arg417Gln) |
| 18.1 (F) | Caucasian | 1.17/17 | + | + | + | − | − | C | Proteinuria, ESRF, Tx | + | − | n.d. | CI, CIII, CIV | c.713A>G p.(Asn238Ser); c.1003delG p.(Ala335Leufs*2) |
| 18.2 (F) | Caucasian | At birth/14 | + | + | + | − | + | C | Proteinuria, ESRF, A, Tx | + | − | n.d. | CI, CIII, CIV | c.713A>G p.(Asn238Ser); c.1003delG p.(Ala335Leufs*2) |
| 19 (M) | Caucasian | At birth/*4.25 | + | + | + | − | + | C | RTA, A, CD (autopsy) | + | LVH | + | CI, CIV | c.613G>T p.(Asp205Cysfs*4); c.713A>G p.(Asn238Ser) |
| 20.1 (F) | n.s. | 0.17/*1.08 | n.s. | n.s. | n.s. | + | + | C | − | n.s. | n.d. | + | n.d. | Homozygous c.1250G>A p.(Arg417Gln) |
| 20.2 (F) | n.s. | Day 6/*0.42 | n.s. | n.s. | + | + | + | C | − | n.s. | n.d. | + | Low CIV in fibroblast | Homozygous c.1250G>A p.(Arg417Gln) |
| 21.1 (M) | Saudi Arabian | At birth/*1.5 | n.s. | n.s. | n.s. | n.s. | + | C | − | n.s. | n.d. | + | CIV | Homozygous c.504+1G>A, p.? |
| 21.2 (M) | Saudi Arabian | At birth/*12 days | n.s. | n.s. | n.s. | n.s. | n.s. | C | − | n.s. | n.d. | + | n.d. | Homozygous c.504+1G>A, p.? |
| 21.3 (F) | Saudi Arabian | At birth/*8 months | n.s. | n.s. | n.s. | n.s. | n.s. | C | − | n.s. | n.d. | + | n.d. | Homozygous c.504+1G>A, p.? |
| 21.4 (M) | Saudi Arabian | At birth/*4 months | n.s. | n.s. | n.s. | n.s. | n.s. | C | − | n.s. | n.d. | + | n.d. | Homozygous c.504+1G>A, p.? |
| 21.5 (F) | Saudi Arabian | Stillborn | n.s. | n.s. | n.s. | n.s. | n.s. | n.d. | − | n.s. | n.d. | n.d. | n.d. | Homozygous c.504+1G>A, p.? |
*, Deceased, ↑, Lact, raised serum lactate; A, anaemia; C, central hypotonia; CI, complex I; CIII, complex III; CIV, complex IV; CD, cystic dysplasia; CKD, chronic kidney disease; DCM, dilated cardiomyopathy; DD, developmental delay; ESRF, end stage renal failure; F, female; FTT, failure to thrive; HB, heart block; HCM, hypertrophic cardiomyopathy; HTN, hypertension; LA, lactic acidosis; LVH, left ventricular hypertrophy; M, male; MA, metabolic acidosis with normal serum lactate; MC, microcephaly; MRC, mitochondrial respiratory chain; n.d., no data; n.s., not stated; P, peripheral spasticity; PDA, patent ductus arteriosus; PPM, permanent pacemaker; PT, pulmonary hypertension; RTA, renal tubular acidosis/persistent hyponatraemia and hyperkalaemia; SNHL, sensorineural hearing loss; Sz, seizure; Tx, renal transplant; VSD, ventricular septal defect.