PMID- 11426446
OWN - NLM
STAT- MEDLINE
DCOM- 20010913
LR  - 20091119
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 98
IP  - 1
DP  - 2001 Jan 1
TI  - Exclusion of growth factor gene mutations as a common cause of Sotos syndrome.
PG  - 101-2
AB  - 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.
FAU - Lin, A E
AU  - Lin AE
AD  - Genetics and Teratology Unit, Massachusetts General Hospital, Boston 02114, USA. 
      lin.angela@mgh.harvard.edu
FAU - Liu, Q
AU  - Liu Q
FAU - Mannheim, G B
AU  - Mannheim GB
FAU - Darras, B T
AU  - Darras BT
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 0 (Nerve Growth Factors)
RN  - 0 (Neurotrophin 3)
SB  - IM
MH  - Abnormalities, Multiple/etiology/genetics
MH  - Brain-Derived Neurotrophic Factor/genetics
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Genetic Testing
MH  - Gigantism/*etiology/genetics
MH  - Growth Disorders/etiology/genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Mutation
MH  - Nerve Growth Factors/*genetics
MH  - Neurotrophin 3/genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Syndrome
EDAT- 2001/06/28 10:00
MHDA- 2001/09/14 10:01
CRDT- 2001/06/28 10:00
PHST- 2001/06/28 10:00 [pubmed]
PHST- 2001/09/14 10:01 [medline]
PHST- 2001/06/28 10:00 [entrez]
AID - 10.1002/1096-8628(20010101)98:1<101::AID-AJMG1016>3.0.CO;2-P [pii]
PST - ppublish
SO  - Am J Med Genet. 2001 Jan 1;98(1):101-2.