Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene

De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman

“…However, some authors would refer to Schlesinger as the first reporter of this condition as he initially described its symptoms in 1931.The incidence of SoS in the Middle East and North Africa (MENA) region is unknown. Literature review and searching PubMed, MEDLINE, and Embase databases, using "NSD1 mutation" and "Sotos syndrome" as keywords, showed only two case reports from MENA; the first was from Egypt in 2016 [1] and the other one was from Saudi Arabia in 2018. The second paper referred to a Saudi report from the nineties describing 14 children diagnosed clinically to have SoS and another case report from the same period.…”