Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature
Joint Authors
Abdullah, Sarah
Reginold, William
Kiss, Courtney
Harrison, Karen J.
MacKenzie, Jennifer J.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-09-21
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity.
Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity.
Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth.
However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor.
We report the case of a four-and-a-half-year-old boy with an interstitial deletion involving the long arm of chromosome 18 (46,XY,del(18)(q21.32q22.1)) encompassing the MC4R gene.
This patient presented with tall stature and hyperphagia within his first 18 months of life leading to significant obesity.
This case supports haploinsufficiency of MC4-R as it describes a MC4-R deficiency phenotype in a patient heterozygous for a full MC4R gene deletion.
The intact functional allele with MC4-R haploinsufficiency has the potential to favor a therapeutic response to gastric surgery.
Currently, small molecule MC4-R agonists are under development for pharmacologic therapy.
American Psychological Association (APA)
Abdullah, Sarah& Reginold, William& Kiss, Courtney& Harrison, Karen J.& MacKenzie, Jennifer J.. 2016. Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature. Case Reports in Pediatrics،Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1102421
Modern Language Association (MLA)
Abdullah, Sarah…[et al.]. Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature. Case Reports in Pediatrics No. 2016 (2016), pp.1-6.
https://search.emarefa.net/detail/BIM-1102421
American Medical Association (AMA)
Abdullah, Sarah& Reginold, William& Kiss, Courtney& Harrison, Karen J.& MacKenzie, Jennifer J.. Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature. Case Reports in Pediatrics. 2016. Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1102421
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1102421