S252W mutation in Indian patients of Apert syndrome

K. M. Girisha, Shubha R. Phadke, Faisal Khan, Suraksha Agrawal

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)733-735
Number of pages3
JournalIndian Pediatrics
Volume43
Issue number8
Publication statusPublished - 2006

Fingerprint

Acrocephalosyndactylia
Mutation
Restriction Fragment Length Polymorphisms
Exons
Receptor, Fibroblast Growth Factor, Type 2
DNA
DNA Sequence Analysis
Polymerase Chain Reaction
Enzymes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Girisha, K. M., Phadke, S. R., Khan, F., & Agrawal, S. (2006). S252W mutation in Indian patients of Apert syndrome. Indian Pediatrics, 43(8), 733-735.
Girisha, K. M. ; Phadke, Shubha R. ; Khan, Faisal ; Agrawal, Suraksha. / S252W mutation in Indian patients of Apert syndrome. In: Indian Pediatrics. 2006 ; Vol. 43, No. 8. pp. 733-735.
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Girisha, KM, Phadke, SR, Khan, F & Agrawal, S 2006, 'S252W mutation in Indian patients of Apert syndrome', Indian Pediatrics, vol. 43, no. 8, pp. 733-735.

S252W mutation in Indian patients of Apert syndrome. / Girisha, K. M.; Phadke, Shubha R.; Khan, Faisal; Agrawal, Suraksha.

In: Indian Pediatrics, Vol. 43, No. 8, 2006, p. 733-735.

Research output: Contribution to journalArticle

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Girisha KM, Phadke SR, Khan F, Agrawal S. S252W mutation in Indian patients of Apert syndrome. Indian Pediatrics. 2006;43(8):733-735.