Recent developments in orofacial cleft genetics.
Nonsyndromic cleft of the lip and/or palate (CLP or orofacial cleft) derives from an embryopathy with consequent failure of the nasal process and/or palatal shelves fusion. This severe birth defect is one of the most common malformations among live births. Nonsyndromic CLP is composed of two separate entities: cleft lip and palate (CL+/-P) and cleft palate only (CPO). Both have a genetic background, and environmental factors probably disclose these malformations. In CL+/-P, several loci have been identified, and, in one case, a specific gene has also been found. In CPO, one gene has been identified, but many more are probably involved. Because of the complexity of the genetics of nonsyndromic CLP as a result of the difference between CL+/-P and CPO, heterogeneity of each group caused by the number of involved genes, type of inheritance, and interaction with environmental factors, we discuss the more sound results obtained with different approaches: epidemiological studies, animal models, human genetic studies, and in vitro studies.
Carinci
Francesco
F
Maxillofacial Surgery, School of Medicine, Center of Molecular Genetics, CARISBO Foundation, and Institute of Histology and General Embryology, School of Medicine, University of Bologna, Italy. crc@unife.it
Pezzetti
Furio
F
Scapoli
Luca
L
Martinelli
Marcella
M
Avantaggiato
Anna
A
Carinci
Paolo
P
Padula
Ernesto
E
Baciliero
Ugo
U
Gombos
Fernando
F
Laino
Gregorio
G
Rullo
Rosario
R
Cenzi
Roberto
R
Carls
Fredrick
F
Tognon
Mauro
M
D000818:Animals; D002874:Chromosome Mapping; D002971:Cleft Lip / Q000209:etiology / Q000235:genetics*; D002972:Cleft Palate / Q000209:etiology / Q000235:genetics*; D004195:Disease Models, Animal; D004777:Environment; D016021:Epidemiologic Studies; D006801:Humans; D009666:Nose / Q000196:embryology; D010159:Palate / Q000196:embryology