ArticleKidney international2016
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
Article in Kidney international, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 92 citations in OpenAlex.
- HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.International journal of molecular sciences · 2026Article
- Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.Clinical journal of the American Society of Nephrology : CJASN · 2026Observational
- A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.Frontiers in endocrinology · 2026Article
- 17q12 Recurrent Deletion Syndrome in Childhood.Genes · 2025Review
- MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.Genes · 2025Review
- Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025Article
- Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.Archives of gynecology and obstetrics · 2024Article
- Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.Journal of pediatric endocrinology & metabolism : JPEM · 2024Article
- Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.Journal of neurodevelopmental disorders · 2024Article
- Renal and Extrarenal Phenotypes in Patients WithKidney international reports · 2024Article
- Comment on a recent article titled 'Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia'.Journal of diabetes investigation · 2024Article
- A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion SyndromeJournal of clinical research in pediatric endocrinology · 2024Article
- Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.Journal of diabetes investigation · 2024Article
- Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities.Frontiers in genetics · 2024Article
- Review
- Pregnancy outcome with maternalObstetric medicine · 2023Review
- Recurrent 17q12 microduplications contribute to renal disease but not diabetes.Journal of medical genetics · 2023Article
- Review of neurodevelopmental disorders in patients with HNF1B gene variations.Frontiers in pediatrics · 2023Review
- Association between ultrasonography foetal anomalies and autism spectrum disorder.Brain : a journal of neurology · 2022Article
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.Disease models & mechanisms · 2022Article
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Authors and funding
12 authors at 5 institutions in 1 country.
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Abstract
Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 additional genes. This 17q12 deletion has been linked with an increased risk of neurodevelopmental disorders, such as autism. Here we compared the neurodevelopmental phenotype of 38 patients with HNF1B-associated renal disease due to an intragenic mutation in 18 patients or due to 17q12 deletion in 20 patients to determine whether haploinsufficiency of HNF1B is responsible for the neurodevelopmental phenotype. Significantly, brief behavioral screening in children with the deletion showed high levels of psychopathology and its impact. Eight individuals (40%) with a deletion had a clinical diagnosis of a neurodevelopmental disorder compared to none with an intragenic mutation. The 17q12 deletions were also associated with more autistic traits. Two independent clinical geneticists were able to predict the presence of a deletion with a sensitivity of 83% and specificity of 79% when assessing facial dysmorphic features as a whole. Thus, the 17q12 deletions but not HNF1B intragenic mutations are associated with neurodevelopmental disorders. Hence, the HNF1B gene is not involved in the neurodevelopmental phenotype of these patients. Nephrologists need to be aware of this association to ensure appropriate referral to psychiatric services.
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