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Article

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Kidney international - 1 Jul 2016

Clissold Rhian L, Shaw-Smith Charles, Turnpenny Peter, Bunce Benjamin, Bockenhauer Detlef, Kerecuk Larissa, Waller Simon, Bowman Pamela, Ford Tamsin, Ellard Sian, Hattersley Andrew T, Bingham Coralie

Abstract excerpt

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...

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Identifiers

PMID: 27234567
DOI: 10.1016/j.kint.2016.03.027
PMCID: PMC4915913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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