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

Show simple item record

dc.contributor.author Loid, Petra
dc.contributor.author Mäkitie, Riikka
dc.contributor.author Costantini, Alice
dc.contributor.author Viljakainen, Heli
dc.contributor.author Pekkinen, Minna
dc.contributor.author Mäkitie, Outi
dc.date.accessioned 2021-02-02T09:17:01Z
dc.date.available 2021-02-02T09:17:01Z
dc.date.issued 2018-09
dc.identifier.citation 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
dc.identifier.other PURE: 116663773
dc.identifier.other PURE UUID: 2277141a-ccb5-4f7c-a783-b45648b0b6e5
dc.identifier.other WOS: 000445271900026
dc.identifier.other Scopus: 85051027214
dc.identifier.other ORCID: /0000-0002-7486-3437/work/49416239
dc.identifier.uri http://hdl.handle.net/10138/325654
dc.description.abstract 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. en
dc.format.extent 4
dc.language.iso eng
dc.relation.ispartof American Journal of Medical Genetics. Part A
dc.rights unspecified
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject hyperphagia
dc.subject infancy-onset obesity
dc.subject MYT1L
dc.subject GENE
dc.subject 3111 Biomedicine
dc.title A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability en
dc.type Article
dc.contributor.organization Clinicum
dc.contributor.organization Children's Hospital
dc.contributor.organization University of Helsinki
dc.contributor.organization Department of Food and Nutrition
dc.contributor.organization Christel Lamberg-Allardt / Research Group
dc.contributor.organization Lastentautien yksikkö
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization HUS Internal Medicine and Rehabilitation
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1002/ajmg.a.40370
dc.relation.issn 1552-4825
dc.rights.accesslevel openAccess
dc.type.version acceptedVersion

Files in this item

Total number of downloads: Loading...

Files Size Format View
MYT1L_final_draft_AJMG.pdf 688.8Kb PDF View/Open

This item appears in the following Collection(s)

Show simple item record