S252W mutation in Indian patients of Apert syndrome.

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dc.contributor.authorGirisha, K Men_US
dc.contributor.authorPhadke, Shubha Ren_US
dc.contributor.authorKhan, Faisalen_US
dc.contributor.authorAgrawal, Surakshaen_US
dc.date.accessioned2006-08-05en_US
dc.date.accessioned2009-05-27T05:04:32Z
dc.date.available2006-08-05en_US
dc.date.available2009-05-27T05:04:32Z
dc.date.issued2006-08-05en_US
dc.description.abstractTwo common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. They can be analyzed by amplifying the segment followed by testing for the abolition of restriction sites. We evaluated two children with typical features of Apert syndrome. A segment of FGFR2 exon IIIa was amplified by polymerase chain reaction. Restriction fragment length polymorphism was analyzed using enzymes MboI and BglI respectively for S252W and P253R mutations. The DNA segment was sequenced using ABI 310 automated DNA fragment analyzer. Both the patients showed S252W mutations. DNA sequencing confirmed the results of the restriction fragment length polymorphism. Our study is the first report from Indian subcontinent to show the prevalence of S252W mutation among Apert syndrome patients from Indian origin.en_US
dc.description.affiliationDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, (U.P.), India.en_US
dc.identifier.citationGirisha KM, Phadke SR, Khan F, Agrawal S. S252W mutation in Indian patients of Apert syndrome. Indian Pediatrics. 2006 Aug; 43(8): 733-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/7949
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshAcrocephalosyndactylia --geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshReceptor, Fibroblast Growth Factor, Type 2 --geneticsen_US
dc.titleS252W mutation in Indian patients of Apert syndrome.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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