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. 2010 Feb;1(1):42-5.
doi: 10.1159/000275671. Epub 2010 Jan 11.

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

E Baple  1 , R Palmer, R C M Hennekam
Affiliations

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

E Baple et al. Mol Syndromol. 2010 Feb.

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 initially resemble Beckwith-Wiedemann syndrome.

Keywords: ACADS; Anxieties; Beckwith-Wiedemann syndrome; Contiguous gene syndrome; Deletion 12q24.31; HNF1A; Macroglossia; Neonatal hyperinsulinism; Overgrowth; P2RX7.

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Figures

Fig. 1
Fig. 1
a Proband at 9 months of age. Note the macroglossia, large mouth and full cheeks. b, c Proband at 13 years. Note upslanting palpebral fissures, broad nasal base, full cheeks, irregularly placed teeth, full and everted lower lip, and narrow but large ears with a thick helix.
Fig. 2
Fig. 2
Ideogram showing the deleted region (between 1.58 and 2.53 Mb in size) of 12q24.31 in the present proband, and the annotated genes in the region. BACs RP11-18C24, RP11-44F24 and RP11-87C12 are deleted, the other BACs are present.
See this image and copyright information in PMC

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