A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder - PubMed (original) (raw)

Case Reports

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

Maria Clara Bonaglia et al. Mol Cytogenet. 2014.

Abstract

Terminal and interstitial deletions of 2p25.3 (size < Mb), detected by array-CGH analysis, have been reported in about 18 patients sharing common clinical features represented by early-onset obesity/ overweightness associated with intellectual disabilities (ID) and behavioural troubles. This observations led to hypothesize that 2p subtelomeric deletion should be associated with syndromic obesity and MYT1L became the main candidate gene for ID and obesity since it is deleted or disrupted in all hitherto published cases. Here we described a 2p25.3 de novo terminal deletion of 1.9 Mb, of paternal origin, detected by array-CGH analysis in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN. Here, we discuss the combined functional effects of additional haploinsufficient genes, that may concur with heterozygous deletion of MYT1L, in the aetiology for syndromic obesity associated with 2p25.5 subtelomeric deletion.

Keywords: Deletion 2p25.3; Hypekinetic disorder; Language delay; MYT1L; Obesity.

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Figures

Figure 1

Figure 1

Details of growth - BMI-for age and facial/physical appearance of the patient. A. On the left, growth curves for our patient showing early-onset obesity; on the right, BMI at 41 and 53 months. The source of growth and BMI-for-age graphic is:

http://www.chartsgraphsdiagrams.com/HealthCharts/growth-2-20-girls.html

. B. Photographs of the patient: (a) frontal face, (b) lateral face, and (c) full frontal views. Note the square-shaped truncal build.

Figure 2

Figure 2

Molecular details of 2p25.3 deletion.Array- CGH profile of chromosome 2 showing (A) a terminal deletion of 1.9 Mb at 2p25.3, and (B) an enlargement of the 2p25.3 deletion. Genomic view of the terminal 1.9 Mb of chromosome 2p25.3(C): UCSC genes (GRCh37/hg19) are shown. The screenshot shows the deletion breakpoint disrupting MYT1L.

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