פרופ אשכנזי או משיח

ביצירת התסמונת מששתתפים מספר אקסונים היוצרים את הטיולוגיה האפשרית,כדאי לברר עם מומחה גניטיקה על דרך האיתור המרכיב הגנטי להלן:
Etiology: Intragenic mutations in the NSD1 gene (nuclear receptor binding SET domain protein 1), that have been associated with Sotos syndrome, have been found in patients with Weaver syndrome.The majority of known NSD1 functional domains are in exons 11-23 and all mutations identified were clustered in these domains. The NSD1 mutations in patients with Weaver syndrome are in exons 5, 16, 19, 22 and 23. The identification of NSD1 mutation in patients with Weaver and Sotos syndrome demonstrates that the two conditions are allelic, but it remains possible that separate, second Weaver syndrome gene exists.
The pathophysiology and the etiology of the other cases remain unknown.
Although both sexes are affected, the sex ratio is 2M:1F.