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Report for Clinical Trial NCT00106977

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss. The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome. Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures: - Review of medical records and test results. - Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies. - Physical, neurological, ear, nose and throat, dental, and eye examinations. - Neuropsychological testing to assess cognitive thinking abilities. - Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to measure brain waves in response to certain conditions. - MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. - MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images. - CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied. - Dental evaluation with x-rays. - Skeletal survey (x-rays of all bones of the body). - Developmental assessment of IQ testing. - Blood tests for research purposes. A cell line may be established for use in future research. - Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet. - Other consultations or tests as clinically indicated

NCT00106977 Craniosynostosis Muenke Syndrome
MeSH: Craniosynostoses Syndrome
HPO: Brachycephaly Craniosynostosis Lambdoidal craniosynostosis Metopic synostosis Oxycephaly Premature closure of fontanelles Scaphocephaly Trigonocephaly Turricephaly


Primary Outcomes

Description: The objective of this study is primarily to increase our understanding of the genetics and clinical characteristics of Muenke syndrome.

Measure: Understanding

Time: Ongoing

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 P250R

The objective of this study is primarily to increase our understanding of the genetics and clinical characteristics of Muenke syndrome.. - INCLUSION CRITERIA: Subjects who have had confirmation of a Pro250Arg mutation in FGFR3 by a CLIA-certified laboratory. --- Pro250Arg ---

Geneticists and genetic counselors may refer individuals who are suspected to have Muenke syndrome, but who have not yet been tested for the FGFR3 Pro250Arg mutation. --- Pro250Arg ---

Testing for the Pro250Arg mutation maybe performed at the discretion of our research group. --- Pro250Arg ---

- INCLUSION CRITERIA: Subjects who have had confirmation of a Pro250Arg mutation in FGFR3 by a CLIA-certified laboratory. --- Pro250Arg ---



HPO Nodes


HPO:
Brachycephaly
Genes 236
PEX1 NANS RAB3GAP1 TBC1D24 ZSWIM6 TCF12 EHMT1 UPF3B MS4A1 NIPBL CYP26B1 FGFR3 NFKB2 RAI1 PIGL SMS MMP2 IQSEC2 RERE RNF216 RMRP MMP14 UBE3B XRCC4 PTH1R IRX5 FGFR2 TUBB LRP5 PTRH2 ALX4 FBN1 PIGL RAI1 SIM1 EFNB1 GRIA3 MIR140 SMC3 ZIC1 CTU2 SATB2 SMC3 PTPN11 TECPR2 OTUD6B RAB23 HDAC8 FGFR2 SPECC1L ICOS TNFSF12 AMER1 SLC25A24 PNPLA6 GJA1 BMP4 SETD5 PIGV PIGY FGFR1 INTU PNPLA6 ALX4 FBN2 FGFR3 CCDC47 B3GLCT ALG9 TAPT1 TNFRSF13B DEAF1 NRXN1 FUCA1 TMCO1 PGAP2 PTCH2 MBD5 ALDH18A1 SMC1A LIG4 RAB18 PIGW ATIC SUFU TRAPPC9 TGFB3 FHL1 PCLO COL11A1 SRD5A3 TWIST1 RAF1 RUNX2 IL11RA BRAF ATP7A HDAC8 TNFRSF13C FKTN RAB3GAP2 ATRX DSE PTCH1 TWIST1 CR2 ADSL MED12 NALCN CHST14 EFNB1 HCFC1 AGA FGFR3 ATIC SKI ZSWIM6 CD19 KDM1A MGAT2 ADSL FGFR2 BUB1B OTUD6B TBX2 FGFR3 FAM20C WASHC5 ERF RBM8A PRDM16 EXT2 MAF RECQL4 PIGT FGFR2 ESCO2 IQSEC2 EHMT1 NGLY1 HUWE1 PIGL TTC8 MMP2 FGFR2 KMT2A GABRD RMRP FGFR1 AUTS2 SLC25A24 CDH11 ZDHHC9 PIGO POLR1C POR FGFR3 NEK1 PQBP1 RAI1 FGFR2 CDK10 CHST3 NIPBL ADNP SMC1A MECP2 FGFR2 TBC1D20 WAC SLC12A6 ACOX1 PGAP3 TWIST1 RAB3GAP2 RAB3GAP2 GRIA3 PRKCD PDE4D SP7 FGFR2 ALG9 STAC3 PRKAR1A PCGF2 ZIC1 RAD21 SETBP1 MEGF8 TBL1XR1 TDP2 FGFR2 UBE3B ESCO2 HSPA9 ADAMTSL1 TMCO1 ZBTB20 POR FLII MSX2 POLR1D CD81 SETD5 TECPR2 USP9X UNC80 POGZ USP9X NFKB1 FGFR2 TCF20 CNTNAP2 MED13L TNFSF12 SETD5 FKBP10 LAS1L KCNAB2 TCOF1 ALX1 PRKAR1A RECQL4 CTSK ADAMTS10 FGFR2 SKI CDH11 UBE3A FGFR3 NBAS TWIST1 B3GAT3 POGZ GATA1 PHF21A
Craniosynostosis
Genes 191
GTF2H5 IFT122 NSD1 CDC45 TNFSF11 CCNQ SETD2 GPC6 KAT6A MEGF8 TBC1D24 AKT1 SON ERCC2 FGFR2 SPECC1L FGFR3 CYP26B1 WDR35 ERF FGFR3 P4HB NFIX RBBP8 MYH3 MED12 PSAT1 MPLKIP TARS1 ALX4 ALPL ESCO2 STAT3 ENPP1 SLC12A6 ALX4 GNPTAB HUWE1 CDT1 RTTN FGFR1 DMP1 IRX5 FGFR2 FGFR2 LRP5 HNRNPK ATRIP DPF2 FGFR1 TBX1 GP1BB SLC25A24 CEP120 CDH11 FGFR2 GLI3 TGFBR1 PHEX NSUN2 EFNB1 SLC39A8 COL10A1 TLK2 ORC1 SNX10 FGFR1 SLC39A8 FLNA FGFR1 POR FBN1 CCBE1 COLEC10 FGFR3 TWIST1 RNF113A RAB23 FGFR1 FGFR2 ERCC3 POR CENPE ORC4 FGFR2 SLC2A10 SLC25A24 TRAIP BMP4 DMP1 ERF SMAD6 SLC35A2 BPNT2 MASP1 SCARF2 IFT52 FGFR1 KAT6A FGFR2 ALX4 CEP152 SEC24D MAP3K7 HIRA FBN1 FGFR1 CLCN7 FGFR2 FLNB ZIC1 CCBE1 GTF2E2 POLA1 TMCO1 DPH1 CENPJ GLIS3 SPECC1L TGFBR2 MEGF8 RREB1 FGFR2 FGFR2 GMNN MASP1 FGFR2 ORC6 GTF2E2 RSPRY1 TGFBR1 TCF12 ESCO2 TWIST1 WDR35 PPP1CB PPP3CA ZIC1 PLK4 LEMD3 POR FGFR1 SMO WDR19 SMO ATR IL11RA IFT43 MSX2 COLEC11 ADAMTS3 LIG4 ARVCF IFT140 B3GLCT WDR19 SEC24C PCNT RAB23 COLEC11 FGFR2 CDC6 DONSON IFT122 ERF TCIRG1 TWIST1 STAT3 FGFR2 SON TGFBR2 PTEN CDC45 RECQL4 JMJD1C SKI KRAS GLI3 EFNB1 IFT43 FGFR2 SKI FGFR3 TBX1 COMT UFD1 ALPL APC2 CWC27 FAT4 SMAD3
Lambdoidal craniosynostosis
Genes 13
TWIST1 RAB23 SEC24D IL11RA RECQL4 MASP1 FGFR2 FGFR2 BMP4 ERF POR ZIC1 FGFR2
Metopic synostosis
Genes 6
PTCH1 WDR35 FREM1 GLI3 SON SIX2
Oxycephaly
Genes 7
TWIST1 TWIST1 MEGF8 RAB23 MEGF8 ZIC1 FGFR2
Premature closure of fontanelles
Genes 3
ERCC1 CTSD SIX2
Scaphocephaly
Genes 22
KIF15 TBC1D7 FBN2 TWIST1 IL11RA KPTN IFT122 IDS CNTN1 KRAS GLI3 IFT43 GLI3 IFT140 OFD1 NFIX HSD17B4 PEX19 TRAIP ARCN1 DPH1 FBN1
Trigonocephaly
Genes 39
FGFR1 DPF2 PDHX CD96 C2CD3 IL11RA MSX2 ARHGEF9 IFT140 CD96 FREM1 CHD4 FGFR2 ZIC2 FGFR1 KLHL7 DPH1 EFTUD2 ACTB ACTG1 EFTUD2 FLI1 MEGF8 FLCN ACTB ASXL1 GLI3 SLC6A9 RB1 GLI3 ASXL1 SRCAP HUWE1 ACTG1 DPM2 PTCH1 FREM1 PPP3CA ADNP
Turricephaly
Genes 47
PEX1 FGFR2 SEC24D FGFR1 TBX1 GP1BB IL11RA SLC25A24 MSX2 HIRA MEGF8 ARVCF SP7 FGFR2 SEC24C ZIC1 FAM20C RAB23 ERF TWIST1 TWIST1 FGFR2 FERMT1 MEGF8 RECQL4 GPX4 RECQL4 JMJD1C RREB1 FGFR2 FGFR2 FGFR2 SLC12A6 FGFR2 SKI SEC24D PEX5 FHL1 GPX4 TBX1 COMT UFD1 P4HB FGFR3 FGFR2 FGFR2 ZIC1