HNF1B alterations associated with congenital anomalies of the kidney and urinary tract

Makiko Nakayama, Kandai Nozu, Yuki Goto, Koichi Kamei, Shuichi Ito, Hidenori Sato, Mitsuru Emi, Koichi Nakanishi, Shigeru Tsuchiya, Kazumoto Iijima

    Research output: Contribution to journalArticlepeer-review

    70 Citations (Scopus)


    Hepatocyte nuclear factor 1β (HNF1β) abnormalities have been recognized to cause congenital anomalies of the kidney and urinary tract (CAKUT), predominantly affecting bilateral renal malformations. To further understand the spectrum of HNF1β related phenotypes, we performed HNF1B gene mutation and deletion analyses in Japanese patients with renal hypodysplasia (n=31), unilateral multicystic dysplastic kidney (MCDK; n=14) and others (n=5). We identified HNF1B alterations in 5 out of 50 patients (10%). De novo heterozygous complete deletions of HNF1B were found in 3 patients with unilateral MCDK. Two of the patients showed contralateral hypodysplasia, whereas the other patient showed a radiologically normal contralateral kidney with normal renal function. Copy number variation analyses showed 1.4 Mb microdeletions involving the whole HNF1B gene with breakpoints in flanking segmental duplications. We also identified 1 novel truncated mutation (1007insC) and another missense mutation (226G>T) in patients with bilateral hypodysplasia. HNF1B alterations leading to haploinsufficiency affect a diverse spectrum of CAKUT. The existence of a patient with unilateral MCDK with normal renal function might provide genetic insight into the etiology of these substantial populations of only unilateral MCDK. The recurrent microdeletions encompassing HNF1B could have a significant impact on the mechanism of HNF1B deletions.

    Original languageEnglish
    Pages (from-to)1073-1079
    Number of pages7
    JournalPediatric Nephrology
    Issue number6
    Publication statusPublished - 2010 Jun


    • Congenital anomalies of the kidney and urinary tract
    • Copy number variation
    • Hepatocyte nuclear factor 1β
    • Heterozygous microdeletion
    • Unilateral multicystic dysplastic kidney

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Nephrology


    Dive into the research topics of 'HNF1B alterations associated with congenital anomalies of the kidney and urinary tract'. Together they form a unique fingerprint.

    Cite this