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 disorderReport as inadecuate




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 - Download this document for free, or read online. Document in PDF available to download.

Molecular Cytogenetics

, 7:53

First Online: 05 August 2014Received: 06 June 2014Accepted: 17 July 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.

KeywordsDeletion 2p25.3 Obesity Language delay Hypekinetic disorder MYT1L Electronic supplementary materialThe online version of this article doi:10.1186-1755-8166-7-53 contains supplementary material, which is available to authorized users.

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Author: Maria Clara Bonaglia - Roberto Giorda - Sergio Zanini

Source: https://link.springer.com/







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