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ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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abstract:
Case report

MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

André Costa e Silva
1
,
Inês Maio
1
,
Cecília Martins
1
,
Sara Pires
1
,
Cláudia Gonçalves
1

  1. Hospital Santa Luzia, Portugal 2Hospital Pedro Hispano, Portugal
Pediatr Pol 2024; 99 (2)
DOI: https://doi.org/10.5114/polp.2024.140752
Online publish date: 2024/06/22
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Children suffering from intellectual disability, dysmorphic features and organ-specific developmental abnormalities should undergo genetic testing. Entities such as X fragile syndrome should be investigated. If we add obesity to the “equation”, Prader-Willi and Bardet-Biedl are thus far the most common syndromic conditions to be found. The evolution of genetic testing brought several other genetic determinants of developmental delay. We report on a 4-year-old girl presenting with obesity and delayed neurological, cognitive and motor development whose genetic testing by array-based comparative genomic hybridization exposed a partial deletion at chromosome 2p25.3, containing the gene MYT1L.
keywords:

MYT1L, global developmental delay, neurodevelopment, obesity