A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review

Obesity Research and Clinical Practice - Tập 15 - Trang 124-132 - 2021
Laura M.L. Carvalho1, Carla S. D’Angelo1, Zan Mustacchi2,3, Israel T. da Silva4, Ana Cristina V. Krepischi1, Celia P. Koiffmann1, Carla Rosenberg1
1Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo (USP), Sao Paulo, SP, Brazil
2Genetic Outpatient Clinic of the Darcy Vargas Children's Hospital (HIDV), São Paulo, SP, Brazil
3São Paulo Center for Clinical Studies and Research – CEPEC-SP, São Paulo, SP, Brazil
4International Center for Research, A. C. Camargo Cancer Center, Sao Paulo, Brazil

Tài liệu tham khảo

D’Angelo, 2018, Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity, Mol Cytogenet, 11, 10.1186/s13039-018-0363-7 Huvenne, 2016, Rare genetic forms of obesity: clinical approach and current treatments in 2016, Obes Facts, 9, 158, 10.1159/000445061 Campbell, 2017, Genetics of obesity focus, Aust Fam Physician, 46, 456 Kaur, 2017, A systematic review of genetic syndromes with obesity, Obes Rev, 18, 603, 10.1111/obr.12531 Geets, 2019, Clinical, molecular genetics and therapeutic aspects of syndromic obesity, Clin Genet, 95, 23, 10.1111/cge.13367 Wiegand, 2015, Monogene und syndromale Krankheitsbilder bei morbider Adipositas: Selten aber wichtig, Internist, 56, 111, 10.1007/s00108-014-3532-8 Vuillaume, 2014, New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity, Am J Med Genet Part A, 164, 1965, 10.1002/ajmg.a.36587 de Rocker, 2015, Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity, Genet Med, 17, 460, 10.1038/gim.2014.124 Windheuser, 2020, Nine newly identified individuals refine the phenotype associated with MYT1L mutations, Am J Med Genet Part A, 182, 1021, 10.1002/ajmg.a.61515 Blanchet, 2017, MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus, PLoS Genet, 13, 10.1371/journal.pgen.1006957 Faludi, 2017, Atualização da diretriz brasileira de dislipidemias e prevenção da aterosclerose – 2017, Arq Bras Cardiol, 109, 10.5935/abc.20170121 Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324 Depristo, 2011, A framework for variation discovery and genotyping using next-generation DNA sequencing data, Nat Genet, 43, 491, 10.1038/ng.806 Maltese, 2018, A next generation sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: application in a case of Alström syndrome, Eur J Med Genet, 61, 79, 10.1016/j.ejmg.2017.10.016 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Bonaglia, 2014, 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, Mol Cytogenet, 7, 10.1186/1755-8166-7-53 Doco-Fenzy, 2014, Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes, Eur J Hum Genet, 22, 471, 10.1038/ejhg.2013.189 Loid, 2018, A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability, Am J Med Genet Part A, 176, 1972, 10.1002/ajmg.a.40370 de Ligt, 2012, Diagnostic exome sequencing in persons with severe intellectual disability, New Engl J Med, 367, 1921, 10.1056/NEJMoa1206524 al Tuwaijri, 2019, MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature, J Pediatr Endocrinol Metab, 32, 409, 10.1515/jpem-2018-0505 Loid, 2020, Rare variants in genes linked to appetite control and hypothalamic development in early-onset severe obesity, Front Endocrinol, 11, 10.3389/fendo.2020.00081 Mancini, 2015 WHO Technical Counsultation, 2000 Fenichel, 2009 Guo, 2011, Molecular basis of the obesity associated with Bardet-Biedl syndrome, Trends Endocrinol Metab, 22, 286 Miskinyte, 2017, Direct conversion of human fibroblasts to functional excitatory cortical neurons integrating into human neural networks, Stem Cell Res Therapy, 8, 10.1186/s13287-017-0658-3 Vierbuchen, 2010, Direct conversion of fibroblasts to functional neurons by defined factors, Nature, 463, 1035, 10.1038/nature08797 Liang, 2018, Myt1l induced direct reprogramming of pericytes into cholinergic neurons, CNS Neurosci Ther, 24, 801, 10.1111/cns.12821 Chuang, 2017, Partial reprogramming of pluripotent stem cell-derived cardiomyocytes into neurons, Sci Rep, 7, 10.1038/srep44840 Yang, 2013, Direct conversion of adipocyte progenitors into functional neurons, Cell Reprogram, 15, 484, 10.1089/cell.2013.0013 Zhang, 2016, Modeling neurological disease by rapid conversion of human urine cells into functional neurons, Stem Cells Int 2016, 10.1155/2016/2452985 Kim, 1997, vol. 50 Jennifer Abuzzahab, 2019, Hypothalamic obesity: prologue and promise, Horm Res Paediatr, 91, 128, 10.1159/000496564 Cataldo, 2018, A review of oxytocin and arginine-vasopressin receptors and their modulation of autism spectrum disorder, Front Mol Neurosci, 11, 10.3389/fnmol.2018.00027 Brasil. Resolução 466 do Conselho Nacional de Saúde 2012.