Table 1

Summary of all cases (n=32)

PatientEthnicityOnset/current age (year)SNHLDDFTTMCSzToneRenalHTNCardiac↑ LactMRC deficiency (muscle)RMND1 mutation (cDNA/aa change)
1 (F)ItalianAt birth/4+++++CCD, RTA, ESRF, A++CIVc.713A>G p.(Asn238Ser); c.1303C>T p.(Leu435Phe)
2 (M)Caucasian0.17/10.4++ n.s.CESRF+HCM+CIVc.713A>G p.(Asn238Ser); c.565C>T p.(Gln189*)
3 (F)IrishAt birth/*3.1++++NormalRTA, ESRF+HCM, PDA, PT+CI, CIVc.713A>G p.(Asn238Ser); c.533C>A p.(Thr178Lys)
4.1 (M)Caucasian0.5/8+++C, Pn.d.Homozygous c.713A>G p.(Asn238Ser)
4.2 (M)CaucasianAt birth/6+++C, Pn.d.Homozygous c.713A>G p.(Asn238Ser)
5 (F)Caucasian, native AmericanAt birth/9+++++C, PCD, ESRF, Tx++n.d.Homozygous c.713A>G p.(Asn238Ser)
6 (M)European, MexicanAt birth/7.67+++CCD, RTA, ESRF, Tx+Mild LVH+CI, CIII, CIVc.713A>G p.(Asn238Ser); c.1317+1G>T, p.?
7.1 (F)Caucasian1/11++ −NormalCKD stage 2, AMA n.d.c.713A>G p.(Asn238Ser); c.1250G>A p.(Arg417Gln)
7.2 (F)Caucasian1/8++ −NormalCKD stage 3, AMA n.d.c.713A>G p.(Asn238Ser); c.1250G>A p.(Arg417Gln)
8 (F)CaucasianAt birth/3.75+++++NormalRTA, CKD stage 4+Normal+CIVc.631G>A p.(Val211Met); c.830+1G>A p.(Met244Glyfs*20)
9 (M)Pakistan0.11/*6+++++CRTA, CKD+HB+n.d.Homozygous c.1349G>C p.(*450Serext*31)
10.1 (F)Bangladesh0.3/*0.94+++CRTA, ESRF, A+Pericardial effusion, HB+CI, CIVHomozygous c.1349G>C p.(*450Serext*31)
10.2 (F)Bangladesh0.75/*3+++.CRTA, ESRF, A +HB and had PPM+n.d.Homozygous c.1349G>C p.(*450Serext*31)
11.1 (F)Pakistan0.67/*1.33++++CCD (autopsy) −HB+ n.d.Homozygous c.1349G>C p.(*450Serext*31)
11.2 (F)Pakistan0.25/*1++++CRTA, A −Normal+CI, CIVHomozygous c.1349G>C p.(*450Serext*31)
12 (F)Pakistan1.5/*6.67++++CCD, RTA, ESRF n.s.DCMCI, CIII, CIVHomozygous c.1349G>C p.(*450Serext*31)
13 (F)Pakistan0.5/*0.53++++CRTA+Small VSD, HB+CI, CIII, CIVHomozygous c.1349G>C p.(*450Serext*31)
14 (M)Pakistan0.5/*5.8+++CCD, RTA, ESRF+HB+CI, CIII, CIVHomozygous c.1349G>C p.(*450Serext*31)
15 (F)Pakistan0.08/*2++++CCD, ESRF n.s.HBCI, CIII, CIVHomozygous c.1349G>C p.(*450Serext*31)
16 (F)Irish0.11/*3.4+++++PRTA, CKD stage 4++CI, CIVc.713A>G p.(Asn238Ser); c.829_830+2het_delGAGT p.?
17.1 (M)SudaneseAt birth/*0.92+n.s.++C,P+CI, CIII, CIVHomozygous c.1250G>A p.(Arg417Gln)
17.2 (M)SudaneseAt birth/*4 days n.s.n.s n.s.+C, P+n.d.Homozygous c.1250G>A p.(Arg417Gln)
18.1 (F)Caucasian1.17/17+ ++ −CProteinuria, ESRF, Tx+ n.d.CI, CIII, CIVc.713A>G p.(Asn238Ser); c.1003delG p.(Ala335Leufs*2)
18.2 (F)CaucasianAt birth/14+ ++ −+CProteinuria, ESRF, A, Tx+ n.d.CI, CIII, CIVc.713A>G p.(Asn238Ser); c.1003delG p.(Ala335Leufs*2)
 19 (M)CaucasianAt birth/*4.25++++CRTA, A, CD (autopsy)+LVH+CI, CIVc.613G>T p.(Asp205Cysfs*4); c.713A>G p.(Asn238Ser)
20.1 (F)n.s.0.17/*1.08n.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/*0.42n.s. n.s.+++C n.s.n.d.+Low CIV in fibroblastHomozygous c.1250G>A p.(Arg417Gln)
21.1 (M)Saudi ArabianAt birth/*1.5n.s. n.s.n.s. n.s.+C n.s.n.d.+CIVHomozygous c.504+1G>A, p.?
21.2 (M)Saudi ArabianAt birth/*12 daysn.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 ArabianAt birth/*8 monthsn.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 ArabianAt birth/*4 monthsn.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 ArabianStillbornn.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.