Exclusion of growth factor gene mutations as a common cause of Sotos syndrome

Sotos syndrome is characterized by somatic overgrowth, i.e., macrocephaly a nd tall stature. Because the cause and pathogenesis of Sotos syndrome remai n unknown, we selected nerve growth factor (NGF), brain-derived neurotrophi c factor (BDNF) and neurotrophin 3 (NT-3) as possible genes mutated in Soto s syndrome. In seven patients with the classic phenotype, we excluded mutat ions in these growth factor genes. It is possible that these three genes ar e not involved in the cause of Sotos syndrome, or alternatively, mutations could not be identified in the small number of patients studied. Am. J. Med . Gen. 98:101-102, 2001. (C) 2001 Wiley-Liss, Inc.