Autism in Three Patients with Cystic or Hyperechogenic Kidneys and Chromosome 17q12 Deletion

Overview

Journal Nephrol Dial Transplant

Publisher Oxford University Press

Specialties General Surgery
Nephrology

Date 2010 Jul 1

PMID 20587423

Citations 36

Authors

Chantal Loirat

Christine Bellanne-Chantelot

Isabelle Husson

Georges Deschenes

Vincent Guigonis

Nadia Chabane

Affiliations

Soon will be listed here.

Abstract

Background: We report autism in 3 out of 53 children with cystic or hyperechogenic kidneys and heterozygous 17q12 region deletion encompassing hepatocyte nuclear factor-1beta (HNF1B).

Results: They presented mental retardation, social interaction impairments, verbal and non-verbal communication deficits and stereotyped behaviours. Deletion size and location of breakpoints were similar to those reported in patients with renal disease/diabetes only.

Conclusion: Reciprocal genomic rearrangements of the 17q12 region, reported in patients with mental retardation and epilepsy, could also be involved in autism. Nephrologists should be aware of the possibility of autism in patients with 17q12 deletion including HNF1B locus.

Citing Articles

In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.

Feresin A, Lefebvre M, Sjostrom E, Zanus C, Paccagnella E, Bruno I Biomolecules. 2025; 14(12.

PMID: 39766333 PMC: 11727550. DOI: 10.3390/biom14121626.

Large Kidney Cysts in Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.

Alamri N, Lanktree M Can J Kidney Health Dis. 2024; 11:20543581241232470.

PMID: 38370308 PMC: 10874158. DOI: 10.1177/20543581241232470.

Review of neurodevelopmental disorders in patients with HNF1B gene variations.

Nittel C, Dobelke F, Konig J, Konrad M, Becker K, Kamp-Becker I Front Pediatr. 2023; 11:1149875.

PMID: 36969268 PMC: 10034397. DOI: 10.3389/fped.2023.1149875.

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.

Gambella A, Kalantari S, Cadamuro M, Quaglia M, Delvecchio M, Fabris L Cells. 2023; 12(2).

PMID: 36672242 PMC: 9856658. DOI: 10.3390/cells12020307.

A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome.

Yasar Kostek H, Comlek F, Gurkan H, Ozkayin E, Tutunculer Kokenli F J Clin Res Pediatr Endocrinol. 2022; 16(2):205-210.

PMID: 36511482 PMC: 11590729. DOI: 10.4274/jcrpe.galenos.2022.2022-3-2.