Table 1. Newly identified mutations in PKHD1

IDExonaNucleotide ChangebORF ChangecAged (at Diagnosis or Death)Sys. HTNKidney DiseasePortal HTNEthnic Origin
AL 73107C→ TT36MPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
AL 133107C→ TT36MPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
AL 243107C→ TT36MPrenatal diagnosis with terminationNoNephromegalyNoUnknown
323761_3762delCCinsGA1254Xfs
167/7043107C→ TT36MPerinatal (neonatal death)NoNephromegalyNoGerman/Romanian
338/13893107C→ TT36MPerinatal (neonatal death)NoNephromegalyNoEnglish/Dutch
313/12893107C→ TT36MPerinatal (neonatal death); sibling w/infantileYesCRI in second decadeYes; in 20-yr-old siblingGerman
335365G→ CeV1789L
AL 19IVS5IVS5 + 1G→ Tesplice sitePerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
AL 4014977G→ TeG326VPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
AL 8151159_1161delAATeN387delPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
365825A→ GeD1942G
AL 23262810G→ AeW937XPerinatal (neonatal death)NoNephromegalyNoAsian/Caucasian
61 (65)11074C→ TeR3692XAmerican
388/1597262810G→ AeW937XPerinatal (neonatal death)NoNephromegalyUnknownGerman
AL 14293306delTY1102XPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
AL 15303367G→ AG1123SPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
324751G→ TeS1584I
AL 17323761_3762delCCinsGA1254XfsPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
AL 21323761_3762delCCinsGA1254XfsPerinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
50 (51)7921A→ GeT2641A
95/1862323762_3763insGeP1255XfsPerinatal (neonatal death)YesNephromegalyUnknownTurkish
AL 39IVS39IVS39 + 2T→ Gesplice sitePerinatalYesESRF in second decadeNoAmerican-Caucasian
(IVS40)Sibling w/perinatal (neonatal death)
367/151546 (47)7264T→ GeC2422GPerinatal (neonatal death)NoNephromegalyNoAustralian
398/163947 (48)7477C→ TeQ2493XPerinatal (neonatal death)NoNephromegalyUnknownDutch
58 (59)9499A→ TeI3167L
AL 3457 (58)8870T→ CI2957TPrenatal diagnosis with terminationNoNephromegalyNoAmerican-Caucasian
61 (65)10637_10638insCeL3547Xfs
AL 5057 (58)8829_8830insCI2944XfsPerinatal (neonatal death)NoNephromegalyNoScottish-Caucasian
AL 2558 (59)9530T→ CeI3177TPrenatal diagnosis with terminationNoNephromegalyNoUnknown
296/123358 (59)9370C→ TeH3124YPerinatal (neonatal death)NoNephromegalyNoItalian
373/154459 (60)9878A→ TD3293VPerinatal (neonatal death)NoNephromegalyNoTurkish
AL 3760 (61)10075delGG3359XfsPrenatal diagnosis with termination; sibling w/perinatal (neonatal death)NoNephromegalyNoAmerican-Caucasian
61 (65)10728G→ AeW3576X
AL 3061 (65)10765C→ TeQ3589XPerinatal (neonatal death)NoNephromegalyNoHispanic-American
163/6993107C→ TT36MInfantileYesNephromegalyYes; Caroli diseaseGerman
371/15353107C→ TT36MChildhoodNoNephromegalyYesAustrian
46 (47)7264T→ GeC2422G
AL 35252695A→ CeT899PInfantileNoNephromegalyUnknownTurkish