Table 1. Continued

IDExonaNucleotide ChangebORF ChangecAged (at Diagnosis or Death)Sys. HTNKidney DiseasePortal HTNEthnic Origin
Sys. HTN, systemic hypertension; portal HTN, portal hypertension; CRI, chronic renal insufficiency; ESRF, end-stage renal failure requiring renal replacement therapy.
a Exons are numbered sequentially from 1–67 of the longest transcript containing the putative ORF; where these exon numbers differ from the total of 71 non-overlapping exons described in our original report, Onuchic et. al., we provide the corresponding alternative exon number in parentheses.
b Nucleotides are numbered with the “A” in the initiation ATG as 1 and are based on 67 exon transcript that contains longest ORF.
c Codons are numbered based on the 4074 amino acid sequence of the longest ORF.
d Clinical findings: All patients must have congenital hepatic fibrosis but not all were specifically diagnosed by histopathology; those with known portal hypertension are indicated. Among patients with perinatal presentation and neonatal demise, all have nephromegaly and most had rapid and severe course during which systemic hypertension may not have established itself; hence, absence of Sys HTN in this group needs to be interpreted in light of the clinical course.
e Mutations described for the first time in the current report.
57 (58)8829_8830insCI2944Xfs
AL 4325125C→ TeL1709FInfantileYesNephromegaly; CRI in second decadeYesSouth African-Afrikaner
55 (56)8588A→ GeY2863G
AL 58335342C→ TeT1781IInfantileYesNephromegaly; CRIYesAmerican-Caucasian
AL 3375912G→ AeG1971DInfantileYesNephromegaly; ESRF in mid-20s w/transplantNo; +hepatomegalyAmerican-Caucasian
55 (56)8588A→ GeY2863G
AL 27376094G→ CeV2032LInfantileYesNephromegaly; ESRF in second decade w/transplantNo; +hepatomegalyAmerican-Caucasian
AL 4650 (51)8011C→ TR2671XInfantileYesNephromegalyUnknownSaudi Arabian
57 (58)8948C→ TeS2983L
AL 4153 (54)8315T→ CeL2772PInfantileYesNephromegalyUnknownTurkish
AL 3355 (56)8581A→ GeS2861GChildhoodNoNoneYesAmerican-Caucasian
389/160057 (58)8829_8830insCI2944XfsChildhoodYesCRI, second decadeUnknownCzech
AL 3158 (59)9107T→ GeV3036GChildhoodNoNoneYesHispanic-American
AE 24158 (59)9524A→ GeN3175SChildhoodYesNephromegalyNoAfrican American/Caribbean
331/136058 (59)9523A→ GeN3175DInfantileUnknownUnknownTurkish
AL 5363 (67)11347C→ TeP3783SInfantileYesNephromegalyUnknownSaudi Arabian