Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1833369 (OFC3)
 7 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aims of this review are (1) to illustrate current knowledge of the mode of inheritance and the loci involved in the cleft lip and palate and (2) to summarize the results of our investigations, which were carried out in Italy. It is well established that nonsyndromic cleft of the lip with or without the palate (CL+/-P) and cleft palate only (CPO) are separate entities. Genetic heterogeneity has been observed in CL+/-P, which involves different chromosome regions, mainly 6p23 (OFC1), 2q13 (OFC2), and 19q13.2 (OFC3), as well as other loci, such as 4q25-4q31.3 and 17q21. Furthermore, an interaction between different genes has been suggested in the oligogenic model. In one case at least, an OFC1 and OFC2 interaction has been demonstrated. The mode of inheritance of CPO is compatible with a recessive single major gene model, while an association with a candidate gene, mapping on the chromosome region 2q13/TGFalpha, remains to be confirmed.
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PMID:Genetics of nonsyndromic cleft lip and palate: a review of international studies and data regarding the Italian population. 1067 Aug 87

Labial and/or palatine clefts are an interest in example of the interaction between genetic and environmental factors. The OFC1 gene, localized on 6p24.3 would play a primary role in the development of labial and/or palatine clefts while the OFC2 (2p13), OFC3 (19p13.2) and RARA (17q21.1) would play a role in modifying genetic susceptibility. Different environmental, nutritional and toxic factors (alcohol, tobacco, drugs...) could also directly contribute one-third of these oral clefts. Identification of subjects at risk of having a child with labial and/or palatine cleft on the basis of both phenotypic and genotypic factors would be most helpful in recognizing environmental factors triggering their development, a first step towards prevention.
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PMID:[The genetics of labio-palatal clefts]. 1157 71

Nonsyndromic cleft lip and/or palate (or orofacial cleft, OFC) is a malformation characterized by an incomplete separation between nasal and oral cavities without any associated anomalies. The last point defines the distinction between syndromic and nonsyndromic OFC. Nonsyndromic OFC is one of the most common malformations among live births and is composed of two separate entities: cleft lip with or without cleft palate (CL+/-P) and cleft palate isolated (CPI). Because of the complex etiology of nonsyndromic OFC, which is due to the differences between CL+/-P and CPI, and the heterogeneity of each group, caused by the number of genes involved, the type of inheritance, and the interaction with environmental factors, we reviewed those genes and available loci in the literature whose involvement in the onset of nonsyndromic OFC has more sound scientific evidence. Genetic studies on human populations have demonstrated that CL+/-P and CPI have distinct genetic backgrounds and, therefore, environmental factors probably disclose only these malformations. In CL+/-P several loci, OFC from 1 to 10 have been identified. The first locus, OFC1, has been mapped to chromosome 6p24. Other CL+/-P loci have been mapped to 2p13 (OFC2), 19q13.2 (OFC3) and 4q (OFC4). OFC5-8 are identified by mutations in the MSX1, IRF6, PVRL1, and TP73L gene, respectively. OFC9 maps to 13q33.1-q34, whereas OFC10 is associated with haploinsufficiency of the SUMO1 gene. In addition, MTHFR, TGF-beta3, and RARalpha play a role in cleft onset. In CPI one gene has been identified (TBX22) at present, but others are probably involved. Greater efforts are necessary in order to have a complete picture of the main factors involved in lip and palate formation. These elements will permit us to better understand and better treat patients affected by OFC.
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PMID:Human genetic factors in nonsyndromic cleft lip and palate: an update. 1760 1