School level of children carrying a HNF1B variant or a deletion

Eur J Hum Genet. 2020 Jan;28(1):56-63. doi: 10.1038/s41431-019-0490-6. Epub 2019 Sep 3.


The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development-based on school level-of 223 children included in this prospective cohort was studied. Data from 180 children were available for analysis. Patients mean age was 9.6 years, with 39.9% of girls. Among these patients, 119 carried a HNF1B deletion and 61 a disease-associated variant. In the school-aged population, 12.7 and 3.6% of patients carrying a HNF1B deletion and a disease-associated variant had special educational needs, respectively. Therefore, the presence of a HNF1B deletion increases the risk to present with a neuropsychiatric involvement when compared with the general population. On the other hand, almost 90% of patients carrying a HNF1B disease-associated variant or deletion have a normal schooling in a general educational environment. Even if these findings do not predict the risk of neuropsychiatric disease at adulthood, most patients diagnosed secondary to kidney anomalies do not show a neurological outcome severe enough to impede standard schooling at elementary school. These results should be taken into account in prenatal counseling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Academic Performance / statistics & numerical data*
  • Adolescent
  • Child
  • Female
  • Gene Deletion
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Kidney / abnormalities
  • Male
  • Neurodevelopmental Disorders / epidemiology
  • Neurodevelopmental Disorders / genetics*
  • Syndrome


  • HNF1B protein, human
  • Hepatocyte Nuclear Factor 1-beta