Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth, multiple congenital anomalies, and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders.
Beckwith-Wiedemann syndrome [DS:H00713] is a distinct overgrowth condition, and a few cases could be related to NSD1 deletions or mutations.
See also H01751 Weaver syndrome.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V
タイトル
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M
タイトル
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
雑誌
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 160:161-7 (2016) DOI:10.5507/bp.2016.006
