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

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• 作者：Maria Clara Bonaglia ; Roberto Giorda ; Sergio Zanini
• 关键词：Deletion 2p25.3 ; Obesity ; Language delay ; Hypekinetic disorder ; MYT1L
• 刊名：Molecular Cytogenetics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：7
• 期：1
• 全文大小：2,364 KB
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• 刊物主题：Cytogenetics; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1755-8166

文摘

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.