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Article

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

American journal of medical genetics. Part A - 1 Sept 2018

Loid Petra, Mäkitie Riikka, Costantini Alice, Viljakainen Heli, Pekkinen Minna, Mäkitie Outi

Abstract excerpt

The genetic background of severe early-onset obesity is still incompletely understood. Deletions at 2p25.3 associate with early-onset obesity and variable intellectual disability. Myelin-transcriptor-factor-1-like (MYT1L) gene in this locus has been proposed a candidate gene for obesity. We report on a 13-year-old boy presenting with overweight already at 1 year of age (body mass index [BMI] Z-score +2.3) and...

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PMID: 30055078
DOI: 10.1002/ajmg.a.40370

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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