Alper Demirezen1,Oytun Erbaş1

1ERBAS Institute of Experimental Medicine, Illinois, USA & Gebze, Türkiye

Keywords: Deletion, neurological disorders, ovarium, Phelan-McDermid syndrome, SHANK3, sperm


The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome (PMS), has been identified in more than 2200 people worldwide. Globally, there is a delay in development, intellectual deficiencies, and most importantly, difficulty and delay in speech. In addition, there is low muscle tone, weaker eye contact, extreme sensitivity to touch, and aggressive behaviors that suggest communication and social influences like autism or autistic-like traits, which are also classified as neurological disorders. The majority of PMS cases are not inherited genetically. Most often, it happens by mistake when reproductive cells are developing or when a fetus is first developing. Prenatal testing for highrisk pregnancies can reassure in situations where there have been familial rearrangements. This review article provides general information about PMS. In addition, the relationship between PMS and autism spectrum disorder was examined. We also focus on the role of mutations in the SHANK3 gene in PMS.

Cite this article as: Demirezen A, Erbaş O. SHANK3 Mutation and PhelanMcdermid Syndrome. JEB Med Sci 2023;4(1):1-4.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.