ArticleIndian journal of pediatrics2009
Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.
Article in Indian journal of pediatrics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.Orphanet journal of rare diseases · 2025Article
- Review of published 467 achondroplasia patients: clinical and mutational spectrum.Orphanet journal of rare diseases · 2024Review
- Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India.Journal of pediatric genetics · 2023Article
- Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.Diagnostic pathology · 2017Article
- Advances in research on and diagnosis and treatment of achondroplasia in China.Intractable & rare diseases research · 2013Review
- A review of skeletal dysplasia research in India.Journal of postgraduate medicineReview
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4 authors.
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Abstract
objectiveMutation analysis in Indian children with achondroplasia.
methodsWe studied 11 sporadic cases of achondroplasia. Mutation analysis was done by PCR/RFLP (Polymerase chain reaction/Restriction fragment length polymorphism) method.
resultsNine 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.
conclusionFurther 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.
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