| Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. | |
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MedLine Citation:
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PMID: 19929101 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: Evaluation of the IRF6 gene in Van der Woude syndrome cases from an Indian population. SUBJECTS: Nine affected and four unaffected individuals from seven families with Van der Woude syndrome as well as five normal controls (with no history of Van der Woude or any other congenital malformation and belonging to the same geographical area as the families with Van der Woude syndrome). METHOD: Direct sequencing of all coding regions and exon-intron boundaries of the IRF6 gene. RESULTS: Five novel variants: IVS1+3900 A>G, 191 T>C, IVS4+775 C>T, IVS8+218 C>T, 1511 T>A (Ser 416 Arg) and two known variants: IVS6+27 C>G, 1083 G>A (V274I) were detected. Except for one, all were in noncoding regions either in 3'UTR or in introns. There was only one mutation in the coding region, detected in a normal control. CONCLUSION: The present report indicates that point mutations in the coding region of the IRF6 gene may not be a major cause of Van der Woude syndrome in Indian populations. |
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Authors:
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Akhtar Ali; Subodh Kumar Singh; Rajiva Raman |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-03-02 |
Journal Detail:
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Title: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Volume: 46 ISSN: 1055-6656 ISO Abbreviation: Cleft Palate Craniofac. J. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-11-25 Completed Date: 2010-01-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102566 Medline TA: Cleft Palate Craniofac J Country: United States |
Other Details:
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Languages: eng Pagination: 541-4 Citation Subset: D; IM |
Affiliation:
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Department of Zoology, Banaras Hindu University, Varanasi, India. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3' Untranslated Regions
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genetics Abnormalities, Multiple / genetics Adenine Arginine / genetics Cleft Lip / genetics* Cleft Palate / genetics* Cohort Studies Cytosine Exons / genetics Female Genetic Variation / genetics Genotype Guanine Heterozygote Homozygote Humans India Interferon Regulatory Factors / genetics* Introns / genetics Male Open Reading Frames / genetics* Point Mutation / genetics Sequence Analysis, DNA Serine / genetics Syndrome Thymine |
| Chemical | |
Reg. No./Substance:
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0/3' Untranslated Regions; 0/IRF6 protein, human; 0/Interferon Regulatory Factors; 56-45-1/Serine; 65-71-4/Thymine; 71-30-7/Cytosine; 73-24-5/Adenine; 73-40-5/Guanine; 74-79-3/Arginine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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