Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. In the present study, we screened 143 Italian CL/P patients for mutations in PVRL1. Three rare sequence variants in exon 3 that create amino-acid changes were detected in a total of 7 patients. Two of these mutations were not found in a panel of 292 unaffected controls, while the third was found in two controls. This study describes new mutations that may represent genetic risk factors for CL/P. Even though a study to look at the effects of the mutations on nectin1 function was not feasible, supporting evidence was reported, thus confirming the involvement of PVRL1 in the aetiology of non-syndromic CL/P malformation.
Scapoli
L
L
Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy. luca.scapoli2@unibo.it
Palmieri
A
A
Martinelli
M
M
Vaccari
C
C
Marchesini
J
J
Pezzetti
F
F
Baciliero
U
U
Padula
E
E
Carinci
P
P
Carinci
F
F