Muenke Syndrome - FGFR3 Gene (PRO250ARG)

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MUENKE SYNDROME - FGFR3 GENE (PRO250ARG)

Gene Symbol:  FGFR3                                        
Chromosomal Locus: 4p16  
Protein:  Fibroblast growth factor receptor 3 
Pseudonyms: Nonsyndromic Craniodysmorphology
TURNAROUND TIME:     8 days
TESTING METHODOLOGY:  Detection of a P250R (c.749C>G) mutation by PCR and restriction enzyme digestion.
SPECIMEN REQUIREMENTS:
  • Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.  
  • Min. Collection: 0.7 ml whole blood EDTA.
  • Transport: Blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen refrigerated and ship Monday). 
  • Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
  • Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.         
  • Prenatal testing:  Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask.  Maternal blood sample is required for maternal cell contamination studies.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
Note: Counseling and informed consent are recommended for genetic testing; a consent form is available, but not required. 
INTERPRETATIVE DATA:
Incidence:1 in 30,000
Inheritance:75% of these cases are spontaneous; the remainder are inherited in an autosomal dominant manner.
Disease Characteristics: symptoms are extremely variable and can often mimic Crouzon, Pfeiffer or Saethre-Chotzen syndromes. However, unilateral craniosynostosis is common.
Molecular Genetic Mechanism: A single mutation, (P250R) in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene is responsible for all cases of Muenke syndrome. The presence of the mutation is diagnostic.
Clinical Sensitivity: 100% (a diagnosis of Muenke syndrome is defined by the presence of a P250R mutation)
Analytic Sensitivity: 99%
INDICATIONS FOR USE:
  • To determine whether Muenke Syndrome is responsible for the craniosynostosis in an affected individual.
  • To establish whether the symptoms are spontaneous or inherited within a family.
  • Prenatal testing is available to evaluate the risk of having an affected child.
ADDITIONAL RESOURCES:
OMIM Meunke syndrome - www.omim.org/entry/602849
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/FGFR3