Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.
A few cases of Beckwith-Wiedemann syndrome (BWS) have in common a duplication of 11p15. Among the genes located in 11p15, c-Ha-ras 1 (HRAS1), insulin (INS), and insulin-like growth factor II (IGF2) may account for the clinical features and the increased risk for malignancy. Using eight 11p15 markers including HRAS1, INS and IGF2 we have studied eight sporadic and hereditary cases of BWS whether or not associated with a nephroblastoma. By gene dosage determination and family studies, we have shown the following: the eight patients examined had an apparent diploid representation of all of the eight markers studied, thus indicating that a microduplication of these markers or of the region characterized by these markers is not a common event in BWS; in a family with three affected sibs the genes for HRAS1 and INS/IGF2 did not cosegregate with BWS and therefore may not participate in the pathogenic processes here observed.
Henry
I
I
INSERM U 73, Paris.
Jeanpierre
M
M
Barichard
F
F
Serre
J L
JL
Mallet
J
J
Turleau
C
C
de Grouchy
J
J
Junien
C
C
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D015139:Blotting, Southern; D002880:Chromosomes, Human, Pair 11; D011905:Genes, ras; D006801:Humans; D007328:Insulin / Q000235:genetics*; D007335:Insulin-Like Growth Factor II / Q000235:genetics*; D007621:Karyotyping; D005810:Multigene Family; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013002:Somatomedins / Q000235:genetics*
D007328:Insulin; D013002:Somatomedins; D007335:Insulin-Like Growth Factor II