Table 1.

Disease-causing mutations identified in 34 out of 104 (32.7%) renal transplant recipients with onset of CKD at < 25 years of age

FamilyaA Priori Clinical DiagnosisPost-WES DiagnosisExtrarenal ManifestationsFamily HistoryHomozygosity (>75 MB)GeneZygosityc.Change p.Change Segregation (m, p)bConservationPP2c SIFTd/MutationTastereAllele Frequency in gnomADfHGMDg (ACMGh)PMID (if previously reported)
CAKUT
 B910iWolf–Hirschhorn syndromeWolf–Hirschhorn syndromeGrowth failure, seizures, developmental delayNoNo4p16.3 deletionHeterozygous deletion (NA)NA#10995514
B643iL UPJO R MCDKRCADAutismNoNo17q12 deletionHeterozygous deletion (NA)NA#25536396
 B849iBORBORCleft palate, brachial pit, hearing lossNoNoEYA1Hetc.966+1G>CN/AN/ANoneGene (P)Novel
Splice (NA)
 B1162BORBORMalformed ears, hearing loss, polydactylyYes (mother)NoEYA1Hetc.1319G>AC.i.0.786 Tol/DCNoneVariant (P)#10464653
p.R440Q (NA)
B664B/L MCDKRCADNoneNoNoHNF1BHetc.494G>AC.e.0.999 Del/—NoneVariant (LP)#24254850
p.R165H (NA)
B1137VURAlagille syndromeADHD, scoliosis, heart murmurYes (mother)NoJAG1Hetc.2638T>CD.m.0.99 Del/DC0/1/251,430Gene (LP)Novel
p.C880R (NA)
 B848Alagille syndromeAlagille syndromeTetralogy of Fallot, liver failureNoNoJAG1Hetc.2957_2958insTTN/AN/ANoneGene (P)Novel
p.L986Ffs*2 (NA)
B1142B/L renal agenesisFeingold syndromeDuodenal webYes (father)NoMYCNHetc.1178G>AD.m.1.00 Del/DCNoneVariant (LP)#15821734
p.R393H (NA)
B934BORTownes Brocks syndromeMalformed ears, hearing loss, Duane syndrome, VSD, polydactylyNoNoSALL1Hetc.826C>TN/AN/ANoneVariant (P)#9973281
p.R276* (NA, WT)
B625B/L renal dysplasiaEEC syndromeHypergonadotropic hypogonadism, sandal gap deformityYes (pat gpa)NoTP63Hetc.1012C>TC.i.0.99 Del/DC0/1/251,202Gene (LP)Novel
p.R338C (NA; het)