Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of Craniosynostosis syndrome

American Journal of Medical Genetics

Volumn 102, Issue 3, 2001, Pages 282-285

  Wong, Lee Jun C ^a   Chen, Tian Jian ^b   Dai, Pu ^c   Bird, Lynne ^c   Muenke, Maximilian ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Apert syndrome; Craniosynostosis; Crouzon syndrome; Diagnosis error; FGFR2; Pfeiffer syndrome; Primer mismatch

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; PRIMER DNA;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ARTICLE; BASE MISPAIRING; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DIAGNOSTIC ERROR; EXON; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CRANIOSYNOSTOSES; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GENE FREQUENCY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; SYNDROME;

EID: 0035882260     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1461     Document Type: Article

References (13)

1. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy
2. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
3. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in hemochromatosis
4. Preparation and validation of PCR generated positive controls for diagnostic dot blotting
5. Identification ora 55 bp deletion in the beta-glucosidase gene in Gaucher disease: Implications for assays for the N370S mutation
6. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing
7. Craniosynostosis syndromes
8. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
9. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
10. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
11. Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses: A case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia
12. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia
13. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency: An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation