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

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http://hdl.handle.net/10138/325654

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Loid , P , Mäkitie , R , Costantini , A , Viljakainen , H , Pekkinen , M & Mäkitie , O 2018 , ' A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability ' , American Journal of Medical Genetics. Part A , vol. 176 , no. 9 , pp. 1972-1975 . https://doi.org/10.1002/ajmg.a.40370

Titel: A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
Författare: Loid, Petra; Mäkitie, Riikka; Costantini, Alice; Viljakainen, Heli; Pekkinen, Minna; Mäkitie, Outi
Upphovmannens organisation: Clinicum
Children's Hospital
University of Helsinki
Department of Food and Nutrition
Christel Lamberg-Allardt / Research Group
Lastentautien yksikkö
HUS Children and Adolescents
HUS Internal Medicine and Rehabilitation
Datum: 2018-09
Språk: eng
Sidantal: 4
Tillhör serie: American Journal of Medical Genetics. Part A
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.40370
Permanenta länken (URI): http://hdl.handle.net/10138/325654
Abstrakt: 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 obesity at 2 years of age (BMI Z-score +3.8). The patient had hyperphagia and delayed neurological, cognitive and motor development. He also had speech delay, strabismus, hyperactivity and intellectual disability. Brain MRI was normal. The parents and sister had normal BMI. Whole-genome sequencing identified in the index patient a novel de novo frameshift deletion that introduces a premature termination of translation NM_015025.2(MYT1L): c.2215_2224delACGCGCTGCC, p.(Thr739Alafs*7) in MYT1L. The frameshift variant was confirmed by Sanger sequencing. Our finding supports the association of MYT1L mutations with early-onset syndromic obesity. The identification of novel monogenic forms of childhood-onset obesity will provide insights to the involved genetic and biologic pathways.
Subject: hyperphagia
infancy-onset obesity
MYT1L
GENE
3111 Biomedicine
Referentgranskad: Ja
Licens: unspecified
Användningsbegränsning: openAccess
Parallelpublicerad version: acceptedVersion


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