Linkage analysis for nonsyndromic cleft lip and palate using microsatellite PCR markers

Cleft lip with or without cleft palate (CL/P), a common craniofacial malformation, is an embryopathy due to a failure of nasal processes and palatal shelves fusion. Clinical course is characterized by deglutition and respiratory problems, speech defects and otologic diseases; moreover the stigmata produce a difficult in social relations. Since surgery is highly effective in restoring morphological and functional aspects, prenatal diagnosis is of paramount importance in the psychological preparation of parents and planning therapy. As the basic molecular and/or cellular defect underlying CL/P is not completely known, the gene is a candidate for identification by positional cloning. Discordant informations regarding the localization of CL/P major gene has been provided so far. Indeed, different chromosomal regions, 1q21, 2p13, 4q31.3 6p23-25, 17q21.1 and 19q13.1 have been claimed to contain a CL/P locus. Our previous data have indicated the localization of the major gene in 6p23 region, and that CL/P disease is genetically heterogeneous.