Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft

• Published in: Annals of human genetics Vol. 64; no. 4; pp. 341 - 347
• Main Authors: PEZZETTI, F., SCAPOLI, L., MARTINELLI, M., CARINCI, F., BRUNELLI, G., CARLS, F. P., PALOMBA, F., GOMBOS, F., CARINCI, P., TOGNON, M.
• Format: Journal Article
• Language: English
• Published: Edinburgh, UK Cambridge University Press 01.07.2000; Blackwell Science Ltd
• Subjects: Animals; Biological and medical sciences; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 13 - genetics; Chromosomes, Human, Pair 4 - genetics; Chromosomes, Human, Pair 6 - genetics; Cleft Lip - genetics; Cleft Palate - genetics; DNA - genetics; Endothelin-1 - genetics; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Female; Genetic Linkage; Humans; Lod Score; Male; Medical sciences; Mice; Mutation; Non tumoral diseases; Otorhinolaryngology. Stomatology; Receptors, Endothelin - genetics; Human; Endothelin; Linkage; Stomatology; Family study; Pathogenesis; Peptide hormone; Cleft; Endothelin 1; Congenital disease; Genetic determinism; Oral cavity; Gene; Malformation; Vasoconstrictor agent; Oral cavity disease; Face
• ISSN: 0003-4800; 1469-1809
• DOI: 10.1046/j.1469-1809.2000.6440341.x

There is good evidence from linkage analysis and mouse model knockouts that the endothelin-1 gene (EDN1) is a good candidate for non-syndromic orofacial cleft (OFC) disease. EDN1 maps to the chromosomal region of the OFC1 locus in 6p23. Therefore we have examined three other candidate genes in the endothelin pathway (ECE1, EDNRA and EDNRB, which map to chromosomes 1, 4 and 13 respectively) in a linkage study of 9 families with OFC, where the disorder is not linked to chromosome 6p23. The total lod score for these 9 multiplex families never exceeded −2.00 and thus our data suggest that EDN1 and related genes are not involved in non-syndromic familial OFC.