title: S252W mutation in Indian patients of Apert syndrome.
abstract: Two 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.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, (U.P.), India.
authors.forename: K M
authors.initials: KM
authors.lastname: Girisha
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.forename: Faisal
authors.initials: F
authors.lastname: Khan
authors.forename: Suraksha
authors.initials: S
authors.lastname: Agrawal
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2