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Symptoms associated include cognitive impairment, language and motor delay, epilepsy or seizures, psychiatric disorders, autism spectrum disorder (ASD), changes in head size and body weight, and dysmorphic features, with a crucial need to define genes and mechanisms responsible for symptomatology. In this review, we analyze the clinical associations and biological pathways of 16p11.2 locus genes and identify that a majority of 16p11.2 genes relate to metabolic processes. We present a hypothesis in which changes in the dosage of 16p11.2 metabolic genes contribute to pathology through direct or indirect alterations in pathways that include amino acids or proteins, DNA, RNA, catabolism, lipid, energy (carbohydrate). This hypothesis suggests that research into the specific roles of each metabolic gene will help identify useful therapeutic targets.<\/jats:p>","DOI":"10.1002\/bies.202400177","type":"journal-article","created":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T03:44:43Z","timestamp":1735530283000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome"],"prefix":"10.1002","volume":"47","author":[{"given":"Brandon Kar Meng","family":"Choo","sequence":"first","affiliation":[{"name":"Department of Biology Northeastern University  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Barnes","sequence":"additional","affiliation":[{"name":"Department of Biology Northeastern University  Boston Massachusetts USA"},{"name":"Health Sciences Department Sargent College of Health and Rehabilitation Sciences 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