Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes
L Madariaga, V Moriniere, C Jeanpierre… - Clinical Journal of the …, 2013 - journals.lww.com
Results This study identified a disease-causing mutation in HNF1B in 12 cases from 11
families and a mutation in PAX2 in 4 unrelated cases. Various renal phenotypes were
observed, but no case of bilateral agenesis was associated with HNF1B or PAX2 mutations.
Autopsy identified extrarenal abnormalities not detected by ultrasonography in eight cases
but confirmed the absence of extrarenal defects in eight other cases. A positive family history
of renal disease was not significantly more frequent in cases with an identified mutation …
families and a mutation in PAX2 in 4 unrelated cases. Various renal phenotypes were
observed, but no case of bilateral agenesis was associated with HNF1B or PAX2 mutations.
Autopsy identified extrarenal abnormalities not detected by ultrasonography in eight cases
but confirmed the absence of extrarenal defects in eight other cases. A positive family history
of renal disease was not significantly more frequent in cases with an identified mutation …