Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.
Delnatte
Capucine
C
Department of Genetics, Institut Curie, Paris, France.
Sanlaville
Damien
D
Mougenot
Jean-Francois
JF
Vermeesch
Joris-Robert
JR
Houdayer
Claude
C
Blois
Marie-Christine de
MC
Genevieve
David
D
Goulet
Olivier
O
Fryns
Jean-Pierre
JP
Jaubert
Francis
F
Vekemans
Michel
M
Lyonnet
Stanislas
S
Romana
Serge
S
Eng
Charis
C
Stoppa-Lyonnet
Dominique
D