Exclusion of growth factor gene mutations as a common cause of Sotos syndrome.
Sotos syndrome is characterized by somatic overgrowth, i.e., macrocephaly and tall stature. Because the cause and pathogenesis of Sotos syndrome remain unknown, we selected nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF) and neurotrophin 3 (NT-3) as possible genes mutated in Sotos syndrome. In seven patients with the classic phenotype, we excluded mutations in these growth factor genes. It is possible that these three genes are not involved in the cause of Sotos syndrome, or alternatively, mutations could not be identified in the small number of patients studied.
Lin
A E
AE
Genetics and Teratology Unit, Massachusetts General Hospital, Boston 02114, USA. lin.angela@mgh.harvard.edu
Liu
Q
Q
Mannheim
G B
GB
Darras
B T
BT
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D005877:Gigantism / Q000209:etiology* / Q000235:genetics; D006130:Growth Disorders / Q000209:etiology / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009414:Nerve Growth Factors / Q000235:genetics*; D020933:Neurotrophin 3 / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome
D019208:Brain-Derived Neurotrophic Factor; D009414:Nerve Growth Factors; D020933:Neurotrophin 3