Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome.
Mutations in LKB1 lead to Peutz-Jeghers syndrome (PJS). However, only a subset of PJS patients harbours LKB1 mutations. We performed a mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in 28 LKB1-negative PJS patients. No disease-causing mutations were detected in the studied genes in PJS patients from different European populations.
Alhopuro
P
P
Department of Medical Genetics, Biomedicum Helsinki (Haartmaninkatu 8), University of Helsinki, Helsinki FIN-00014, Finland.
Katajisto
P
P
Lehtonen
R
R
Ylisaukko-Oja
S K
SK
Näätsaari
L
L
Karhu
A
A
Westerman
A M
AM
Wilson
J H P
JH
de Rooij
F W M
FW
Vogel
T
T
Moeslein
G
G
Tomlinson
I P
IP
Aaltonen
L A
LA
Mäkelä
T P
TP
Launonen
V
V
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D004265:DNA Helicases; D006801:Humans; D007438:Introns; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport; D009687:Nuclear Proteins; C476400:STRADA protein, human; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases