16p11.2 duplication syndrome
| 16p11.2 duplication syndrome | |
|---|---|
| Other names | Proximal 16p11.2 microduplication syndrome |
 | |
| The inheritance pattern of 16p11.2 duplications is autosomal dominant. | |
| Specialty | Medical genetics |
16p11.2 duplication syndrome is a genetic condition caused by duplication of region on chromosome 16. The odds of developing autism spectrum disorder are elevated and comparable to the rate with 16p11.2 deletion. The rate of having ADHD is higher than in people with deletion.[1][2]
Signs and symptoms
Individuals with a 16p11.2 duplication may experience intellectual impairment and developmental delay. Roughly one-third of kids with this illness experience delays in learning motor skills like sitting, crawling, or walking. Affected people's average IQ is roughly 26 points lower than their parents' IQ without the duplication. Roughly 80% of individuals with a 16p11.2 duplication experience speech or language difficulties. It may have an impact on both receptive and expressive language abilities.[3]
ADHD is among the most prevalent behavioral issues linked to this chromosomal alteration. Approximately one in five individuals with a 16p11.2 duplication are diagnosed with autism spectrum disorder, a condition that impacts social and communication abilities. Additionally, there is a higher chance of mental health issues among affected people, such as sadness, anxiety, and schizophrenia. With this illness, recurrent seizures are conceivable, albeit they are uncommon in the majority of affected persons.[3]
A 16p11.2 duplication can also result in other problems such as renal and urinary system deformities. 16p11.2 duplications do not, however, exhibit a specific pattern of physical anomalies; in fact, the indications and symptoms associated with the chromosomal alteration differ even among afflicted family members.[3]
Causes
A genetic region on the short (p) arm of chromosome 16 at a place known as p11.2 is duplicated in individuals with a 16p11.2 duplication. It is sufficient for a duplication in one copy of chromosome 16 in each cell to generate the disease since 16p11.2 duplications follow an autosomal dominant inheritance pattern.[3]
Research
Researchers at Northwestern University created a mouse model of the syndrome.[4]
References
- ^ Niarchou, Maria; Chawner, Samuel J. R. A.; Doherty, Joanne L.; Maillard, Anne M.; Jacquemont, Sébastien; Chung, Wendy K.; Green-Snyder, LeeAnne; Bernier, Raphael A.; Goin-Kochel, Robin P.; Hanson, Ellen; Linden, David E. J.; Linden, Stefanie C.; Raymond, F. Lucy; Skuse, David; Hall, Jeremy; Owen, Michael J.; Bree, Marianne B. M. van den (16 January 2019). "Psychiatric disorders in children with 16p11.2 deletion and duplication". Translational Psychiatry. 9 (1): 8. doi:10.1038/s41398-018-0339-8. ISSN 2158-3188. PMC 6341088. PMID 30664628.
- ^ Fetit, Rana; Price, David J.; Lawrie, Stephen M.; Johnstone, Mandy (October 2020). "Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children". Psychiatric Genetics. 30 (5): 136–140. doi:10.1097/YPG.0000000000000259. ISSN 0955-8829. PMC 7497286. PMID 32732550.
- ^ a b c d "16p11.2 duplication: MedlinePlus Genetics". MedlinePlus. 2016-12-01. Retrieved 2024-02-23.
- ^ Forrest, Marc P.; Dos Santos, Marc; Piguel, Nicolas H.; Wang, Yi-Zhi; Hawkins, Nicole A.; Bagchi, Vikram A.; Dionisio, Leonardo E.; Yoon, Sehyoun; Simkin, Dina; Martin-de-Saavedra, Maria Dolores; Gao, Ruoqi; Horan, Katherine E.; George, Alfred L.; LeDoux, Mark S.; Kearney, Jennifer A.; Savas, Jeffrey N.; Penzes, Peter (17 February 2023). "Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub". Nature Communications. 14 (1): 825. Bibcode:2023NatCo..14..825F. doi:10.1038/s41467-023-36087-x. ISSN 2041-1723. PMC 9938216. PMID 36808153.