About: Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

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About: Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics
Creator	Ata, Aysun Atik, Tahir Aykut, Ayça Darcan, Şükran Gökşen, Damla Onay, Hüseyin
Source	PMC
abstract	Melanocortin 4 receptor gene plays an important role in food intake, energy balance, and weight control. The autosomal dominantly inherited MC4R variants cause obesity by causing hyperphagia and decreased sense of satiety. Homozygous variants are rarely reported, and they cause earlier/severe obesity. Our objective is to determine the MC4R gene variant frequency in children and adolescents with familial early-onset obesity. One hundred thirty-nine children and adolescents (57 girls/82 boys) whose weight increase started before the age of 5 years and who had early-onset obesity in at least one of their first-degree relatives were included in the study. Obesity is defined as body mass index (BMI) of ≥ 95th percentile, and as extreme obesity is defined if the BMI ≥ 120% of the 95th percentile or ≥ 35 kg/m(2). Children having genetic syndromes associated with obesity and mental retardation or taking drugs that promote changes in eating behavior or weight were excluded from the study. Coding region of the MC4R gene was sequenced by using the Illumina MiSeq Next Generation Sequencing System. The mean age of the patients was 7.3 ± 3.7 years, and the mean BMI SDS was 3.7 ± 0.7. While 118 patients (85%) were prepubertal, 21 patients (15%) were pubertal. Seven different variants were identified in 12 patients by giving a variant detection rate of 8.6%, of these five were previously identified missense variants p.N274S, p.S136F, p.V166I, p.R165W, and p.I291SfsX10. One homozygous variant p.I291SfsX10 (c.870delG) was detected in a severely obese 2-year-old boy, and other variants were heterozygous. Two novel variants were found: p.M200del and p.S188L. By using the in silico analysis software, these novel variants were predicted to be disease causing. Conclusion: MC4R gene variants are quite common in childhood obesity in Turkish population. Screening the variants in MC4R gene is necessary in patients with severe childhood-onset obesity. In such patients, comorbidities of obesity can be seen from early years.
has issue date	2020-03-18(xsd:dateTime)
bibo:doi	10.1007/s00431-020-03630-7
bibo:pmid	32185475
has license	no-cc
sha1sum (hex)	1885b21f3a303b1701140246660eaf1c8902e2f3
schema:url	https://doi.org/10.1007/s00431-020-03630-7
resource representing a document's title	Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics
has PubMed Central identifier	PMC7223532
has PubMed identifier	32185475
schema:publication	Eur J Pediatr
resource representing a document's body	covid:1885b21f3a303b1701140246660eaf1c8902e2f3#body_text
is schema:about of	named entity 'adolescents' named entity 'While' named entity 'Obesity' named entity 'Our' named entity 'gene' named entity 'first-degree relatives' named entity 'familial' named entity 'Illumina' named entity 'familial' named entity 'SYSTEM' named entity 'CAUSING' named entity 'OBESITY' named entity '120' named entity 'TAKING' named entity 'DIFFERENT' named entity 'VARIANTS' named entity 'DRUGS' named entity 'GIVING' named entity 'VARIANT FREQUENCY' named entity 'percentile' named entity 'inherited' named entity 'homozygous' named entity 'genetic syndromes' named entity 'MC4R' named entity 'pubertal' named entity 'energy balance' named entity 'autosomal' named entity 'girls' named entity 'causing' named entity 'patients' named entity 'Coding region' named entity 'obesity' named entity 'disease' named entity 'obese' named entity 'promote' named entity 'BMI' named entity '95th percentile' named entity 'BMI' named entity 'satiety' named entity 'weight control' named entity 'weight increase' named entity 'food intake' named entity 'eating behavior' named entity 'autosomal dominantly inherited' named entity 'body mass index' named entity 'BMI' named entity 'gene variants' named entity 'MC4R' named entity 'QIAGEN' named entity 'MC4R' named entity 'TSH' named entity 'sequence variants' named entity 'amino acid sequence' named entity 'obesity' named entity 'Blood pressure' named entity 'mental retardation' named entity 'Exome Sequencing' named entity 'obesity' named entity 'psychiatric disorder' named entity 'MC4R' named entity 'BMI' named entity 'systemic review' named entity 'adolescent psychiatry' named entity 'MutationTaster' named entity 'coupled receptor' named entity 'Obesity' named entity 'follow-up' named entity 'hypertensive' named entity 'frameshift' named entity 'MC4R' named entity 'obesity' named entity 'hormone' named entity 'missense variants' named entity 'MC4R' named entity 'Phase Ib' named entity 'molecular pathways'

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