A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.

Molecular Syndromology
E BapleR C M Hennekam

Abstract

We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found. Follow-up showed continued overgrowth and disturbed glucose homeostasis, a marked developmental delay, and severe behavioural problems especially caused by anxieties. Array comparative genomic hybridization analysis showed a de novo 12q24.31 interstitial deletion, which was confirmed by fluorescence in situ hybridization. The deleted region contains amongst others: HNF1 homeobox A (HNF1A) which is important for the regulation of gene expression in the liver and involved in maturity-onset diabetes of the young type 3 and insulin resistance; acyl-CoA dehydrogenase short chain (ACADS) which encodes an enzyme important in mitochondrial fatty acid beta-oxidation and can cause short-chain acyl-CoA dehydrogenese (SCAD) deficiency, and purinergic receptor P2X7 (P2RX7) which encodes a ligand-gated ion channel, and of which polymorphisms are found with increased frequency in patients with psychiatric disorders, especially anxieties. We conclude the present patient has a hitherto undescribed contiguous gene syndrome, which can init...Continue Reading

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Citations

Sep 15, 2015·European Journal of Medical Genetics·Brice PoreauCharles Coutton
Feb 14, 2012·Current Problems in Pediatric and Adolescent Health Care·Patricia L Crotwell, H Eugene Hoyme
Nov 28, 2014·American Journal of Medical Genetics. Part a·Orazio PalumboMassimo Carella
Nov 27, 2014·American Journal of Medical Genetics. Part a·Willem M A VerhoevenNicole de Leeuw
Nov 7, 2019·Clinical Epigenetics·I M KrzyzewskaM M A M Mannens
May 22, 2019·Journal of Human Genetics·Kouhei DenNaomichi Matsumoto
Jun 18, 2020·Journal of Medical Genetics·Alexandra RostonUNKNOWN EPGEN Study
Aug 5, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marjolein J A WeertsTahsin Stefan Barakat

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Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.