The Indian Journal of Pediatrics

, Volume 76, Issue 2, pp 147–149 | Cite as

Mutation analysis in Indian children with achondroplasia — utility of molecular diagnosis

Original Article

Abstract

Objective

Mutation analysis in Indian children with achondroplasia.

Methods

We studied 11 sporadic cases of achondroplasia. Mutation analysis was done by PCR/RFLP (Polymerase chain reaction/Restriction fragment length polymorphism) method.

Results

Nine of the 11 cases had mutation G→A at 1138 nucleotide position in transmembrane domain of fibroblast growth-factor receptor 3 (FGFR3) gene. Substitution G→A is a common recurrent mutation reported worldwide. In two cases we could not detect any common mutation and also in entire region of transmembrane domain sequenced. There is possibility of mutation in the other regions of FGFR3 gene in these two cases.

Conclusion

Further study of these two cases is needed in order to define other genotypes resulting in achondroplasia. Postnatal diagnosis of achondroplasia depends on clinical and radiological features. Mutation detection is mainly useful for prenatal diagnosis.

Key words

Achondroplasia FGFR3 gene Skeletal dysplasia 

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Copyright information

© Dr. K C Chaudhuri Foundation 2009

Authors and Affiliations

  • S.J. Patil
    • 1
  • M. Banerjee
    • 1
  • S.R. Phadke
    • 1
  • B. Mittal
    • 1
    • 2
  1. 1.Department of Medical Genetics, Sanjay Gandhi PostgraduateInstitute of Medical SciencesLucknowIndia
  2. 2.Department of Medical Genetics, Sanjay Gandhi PostgraduateInstitute of Medical SciencesLucknowIndia

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