Mutation analysis in Indian children with achondroplasia - Utility of molecular diagnosis

Indian Journal of Pediatrics

Volumn 76, Issue 2, 2009, Pages 147-149

  Patil, S J ^a   Banerjee, M ^a   Phadke, S R ^a   Mittal, B ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Achondroplasia; FGFR3 gene; Skeletal dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INDIA; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ACHONDROPLASIA; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; INDIA; MOLECULAR BIOLOGY; POINT MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 63549098012     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-009-0044-y     Document Type: Article

References (11)

1. C.A. Francomano R.I. Ortiz de Luna T.W. Hefferon 1994 Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p Hum Molec Genet 3 787 792
2. M. Le Merrer F. Rousseau L. Legeai-Mallet J.C. Landias A. Pelet J. Bonaventure 1994 A gene for achondroplasiahypochondroplasia maps to chromosome 4p Nature Genet 6 318
3. R. Shiang L.M. Thompson Y.Z. Zhu D.M. Church T.J. Fielder M. Bocian 1994 Mutation in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia Cell 78 335 342
4. American Academy of Pediatrics Committee on Genetics 1995 Health supervision for children with achondroplasia Pediatrics 95 443 445
5. A.G. Bellu W.T. Hefferon R.I. Ortiz de Luna T.J. Hecht W.A. Horton M. Machado 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3 Am J Hum Genet 56 368 373
6. G. Camera M. Baldi P. Strisciuglio D. Concolino P. Masteroiacovo M. Baffico 2001 Occurrence of Thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutation in to patients with achondroplasia phenotype Am J Med Genet 104 277 281
7. S. Ikegawa Y. Fukushima M. Isomura F. Takada Y. Nakamura 1995 Mutations of fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients Hum Genet 96 309 311
8. M.M. Cohen Jr 2002 Some chondrodysplasias with short limbs: Molecular perspectives Am J Med Genet 112 304 313
9. G. Mettler C.F. Fraser 2000 Recurrence risk for sibs of children with "Sporadic" achondroplasia Am J Med Genet 90 250 251
10. P. Modaff K. Horton R.M. Pauli 1996 Error in the prenatal diagnosis of children with achondroplasia Prenat Diagn 16 525 530
11. H.C. Gooding K. Boehm R.E. Thompson D. Hadley C.A. Francomano B.B. Biesecker 2002 Issues surrounding prenatal genetic testing for achondroplasia Prenat Diagn 22 933 940