Age- and gender-dependent obesity in individuals with 16p11.2 deletion.
Summary of "Age- and gender-dependent obesity in individuals with 16p11.2 deletion."
Recurrent genomic imbalances at 16p11.2 are genetic risk factors of variable penetrance for developmental delay and autism. Recently, 16p11.2 (chr16:29.5 Mb-30.1 Mb) deletion has also been detected in individuals with early-onset severe obesity. The penetrance of 16p11.2 deletion as a genetic risk factor for obesity is unknown. We evaluated the growth and body mass characteristics of 28 individuals with 16p11.2 (chr16:29.5 Mb-30.1 Mb) deletion originally ascertained for their developmental disorders by reviewing their medical records. We found that nine individuals could be classified as obese and six as overweight. These individuals generally had early feeding and growth difficulties, and started to gain excessive weight around 5-6 years of age. Thirteen out of the 18 deletion carriers aged 5 years and older (72%) were overweight or obese, whereas only two of 10 deletion carriers (20%) younger than five were overweight or obese. Males exhibited more severe obesity than females. Thus, the obesity phenotype of 16p11.2 deletion carriers is of juvenile onset, exhibited an age- and gender-dependent penetrance. 16p11.2 deletion appears to predispose individuals to juvenile onset obesity and in this case are similar to the well-described Prader-Willi syndrome (PWS). Early detection of this deletion will provide opportunity to prevent obesity.
Affiliation
Department of Laboratory Medicine, Children's Hospital Boston, Boston, MA 02115, USA; Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai 200127, China.
Journal Details
This article was published in the following journal.
Name: Journal of genetics and genomics = Yi chuan xue bao
ISSN: 1673-8527
Pages: 403-409
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21930099
- DOI: http://dx.doi.org/10.1016/j.jgg.2011.08.003
Medical and Biotech [MESH] Definitions
Gene Deletion
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Anti-obesity Agents
Agents that increase energy expenditure and weight loss by neural and chemical regulation. Beta-adrenergic agents and serotoninergic drugs have been experimentally used in patients with non-insulin dependent diabetes mellitus (NIDDM) to treat obesity.
Gender Identity
A person's concept of self as being male and masculine or female and feminine, or ambivalent, based in part on physical characteristics, parental responses, and psychological and social pressures. It is the internal experience of gender role.
Obesity, Abdominal
A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X.
Sexual And Gender Disorders
Mental disorders related to sexual dysfunction, paraphilias, and gender identity disorders.
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