| Budget Amount *help |
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2005: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2004: ¥2,500,000 (Direct Cost: ¥2,500,000)
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| Research Abstract |
Dominantly acting, allelic mutations of the fibroblast growth factor receptor (FGFR) gene have been described in Apert, Pfeiffer, crouzon syndrome achondroplasia and so on. FGFRs regulate cell proliferation, differentiation and migration in bone and cartilage tissue through complex signaling pathway.
In our laboratory, 4 patients with Crouzon syndrome and A patients with a achondroplasia were analyzed for sequence in the third immunoglobulin domain of FGFR2 and transmembrane domain of FGFR3 using single strand conformation polymorphism analysis (SSCP) and direct-sequencing. We have identified 4 novel mutations of FGFR2 associates with a wide range of phenotypes, ranging from slightness to severe.
In the result follows ;
Case1 : 2 days old female Present illness : V-P shunt operation at 76 days old, Cranioplasty operation at 160 days old
Present status : Hydrocephalus, Remarkable swelling of anterior frontanel, slight brain edema, Exophthaimos
Clinical Diagnosis : Crouzon syndrome (severe)
Ge
… More
ne Diagnosis : Leu343Met [FGFR2 (FGF binding domain) mutation]
Case2 : 2 years old female Present illness: Cranioplasty operation at 2 years old
Present status : High position of palates, Progenie, Delayed psychosexual development, Logopathy
Clinical Diagnosis : Crouzon syndrome (severe)
Gene Diagnosis : Glu289Pro [FGFR2 (FGF binding domain) mutation]
Case3 : 13.5 years old male Present illness : Cranioplasty operation at 13 years old
Present status : High position of palates, Progenie, Exophalmos
Clinical Diagnosis : Crouzon syndrome (mild)
Gene Diagnosis : Ser354Phe [FGFR2 (the third immunoglobulin-TM linker domain) mutation]
Case4 : 7 years old male. Present illness: no Cranioplasty operation
Present status : High position of palates, Progenie, Exophalmos
Clinical Diagnosis : Crouzon syndrome (slightness)
Gene Diagnosis : Leu246+T [FGFR2 (the second and third immunoglobulin linker domain) mutation]
Case5 : 11 months old male. Present illness: V-P shunt operation at 37 weeks old
Present status : Hydrocephalus, Remarkable swelling of anterior frontanel, pathologic femoral fracture, Trident hands, Atlanto-axial laxation
Clinical Diagnosis : Dysosteogenesis
Gene Diagnosis : Achondroplasia [FGFR3 (Transmembrane domain mutation) mutation] Less
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