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Objective: The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. Design: After searching Medline for ‘‘pierre robin and genetics,’’ the Mendelian Cytogenetics Network database for ‘‘robin’’ and ‘‘pierre robin,’’ and two reviews from the Human Cytogenetics Database for ‘‘cleft palate’’ and ‘‘micrognathia,’’ a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. Results: The findings revealed consistency to a certain degree to loci 2q24.1- 33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. Conclusion: Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS. KEY WORDS: chromosomes, craniofacial anomalies, etiology, genetics, Pierre

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Objective: The Pierre Robin Sequence (PRS) is subgroup of the cleft palatepopulation. As with the etiology of cleft lip or palate, the etiology of PRS isgenerally unknown. Some factors are suggestive of a genetic basis for PRS.The purpose of this study was to compare genetic information on PRS availablein the literature and in a cytogenetic database to facilitate focused geneticstudies of PRS.Design: After searching Medline for ‘‘pierre robin and genetics,’’ the MendelianCytogenetics Network database for ‘‘robin’’ and ‘‘pierre robin,’’ and tworeviews from the Human Cytogenetics Database for ‘‘cleft palate’’ and ‘‘micrognathia,’’a comparison of the data and a search in Online Mendelian Inheritancein Man (OMIM) Gene Map was performed to identify relevant candidategenes.Results: The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Mapprovided many candidate genes for PRS in these regions. The GAD67 on 2q31,the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggestedto be of particular importance.Conclusion: Candidate loci and a few potential candidate genes for PRS areproposed from the present study. This may enable researchers to focus theireffort in the studies of PRS.KEY WORDS: chromosomes, craniofacial anomalies, etiology, genetics, Pierre