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S252W mutation in Indian patients of Apert syndrome.
Indian Pediatr. 2006 Aug; 43(8):733-5.IP

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+Show Affiliations

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, (U.P.), India.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16951439

Citation

Girisha, K M., et al. "S252W Mutation in Indian Patients of Apert Syndrome." Indian Pediatrics, vol. 43, no. 8, 2006, pp. 733-5.
Girisha KM, Phadke SR, Khan F, et al. S252W mutation in Indian patients of Apert syndrome. Indian Pediatr. 2006;43(8):733-5.
Girisha, K. M., Phadke, S. R., Khan, F., & Agrawal, S. (2006). S252W mutation in Indian patients of Apert syndrome. Indian Pediatrics, 43(8), 733-5.
Girisha KM, et al. S252W Mutation in Indian Patients of Apert Syndrome. Indian Pediatr. 2006;43(8):733-5. PubMed PMID: 16951439.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - S252W mutation in Indian patients of Apert syndrome. AU - Girisha,K M, AU - Phadke,Shubha R, AU - Khan,Faisal, AU - Agrawal,Suraksha, PY - 2006/9/5/pubmed PY - 2006/10/13/medline PY - 2006/9/5/entrez SP - 733 EP - 5 JF - Indian pediatrics JO - Indian Pediatr VL - 43 IS - 8 N2 - 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. SN - 0019-6061 UR - https://www.unboundmedicine.com/medline/citation/16951439/S252W_mutation_in_Indian_patients_of_Apert_syndrome_ L2 - http://www.indianpediatrics.net/aug2006/733.pdf DB - PRIME DP - Unbound Medicine ER -