SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00106977

Developed by Shray Alag, 2019.
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: Syndrome Craniosynostoses
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 163
RAB23 GABRD SLC25A24 SLC12A6 IL11RA RAF1 FKBP10 FLII PIGL INTU CTU2 SATB2 ADAMTSL1 COL11A1 AMER1 B3GLCT PDE4D ZBTB20 IRX5 ATP7A DEAF1 TCF12 CYP26B1 ERF SRD5A3 TAPT1 CHST14 TCOF1 TNFSF12 USP9X SMC1A ACOX1 PCLO UBE3B IQSEC2 STAC3 POLR1C HDAC8 GATA1 TUBB KCNAB2 PEX1 POR GRIA3 EXT2 UPF3B POGZ ZSWIM6 SPECC1L RUNX2 SIM1 MED13L XRCC4 PTCH1 SKI CR2 PQBP1 TBL1XR1 MECP2 CDK10 TDP2 ALX4 PTH1R B3GAT3 PHF21A TBC1D24 ZIC1 WAC TWIST1 TBC1D20 ESCO2 TGFB3 ADAMTS10 RMRP MSX2 TTC8 GJA1 POLR1D NBAS BMP4 LIG4 NEK1 FAM20C RAB3GAP1 RAB18 PIGT PTPN11 MGAT2 FBN1 FBN2 EFNB1 ICOS PNPLA6 ALX1 ADSL BRAF CD19 MEGF8 MS4A1 NALCN SMC3 TECPR2 WASHC5 SETD5 UBE3A ZDHHC9 FKTN NANS CCDC47 AGA OTUD6B ALG9 RAB3GAP2 NFKB1 NFKB2 SETBP1 RECQL4 BUB1B PTCH2 TNFRSF13C PTRH2 EHMT1 AUTS2 PRKAR1A TNFRSF13B ALDH18A1 LRP5 KMT2A RNF216 PRKCD CD81 RBM8A SMS FGFR1 FGFR3 FUCA1 ATIC FGFR2 NGLY1 RERE MMP2 LAS1L FHL1 MBD5 TMCO1 SUFU PRDM16 CTSK NIPBL HCFC1 MED12 CDH11 TRAPPC9 HSPA9 UNC80 DSE KDM1A RAI1 CHST3 RAD21 SP7 TBX2 MAF
Craniosynostosis
Genes 124
RAB23 TLK2 KRAS SLC25A24 SLC12A6 IL11RA DPH1 FLNA FLNB MYH3 IFT140 MASP1 FAT4 COL10A1 ERCC2 ERCC3 B3GLCT IRX5 TCF12 CENPJ CYP26B1 DONSON ERF COMT ATR ADAMTS3 CENPE LEMD3 SCARF2 ORC6 CWC27 RBBP8 ENPP1 TRAIP GNPTAB APC2 RNF113A KAT6A GLIS3 NSD1 POR TCIRG1 COLEC10 SPECC1L DPF2 RREB1 PTEN SKI GPC6 CCNQ NSUN2 GMNN JMJD1C ALX4 IFT43 RSPRY1 SLC39A8 HNRNPK STAT3 TBC1D24 ZIC1 HIRA TWIST1 PPP1CB CDC45 WDR19 ESCO2 PHEX ORC1 TGFBR1 SLC2A10 MSX2 ORC4 TGFBR2 BMP4 COLEC11 LIG4 SEC24D SETD2 IMPAD1 GTF2E2 TNFSF11 FBN1 IFT52 PPP3CA EFNB1 CEP120 ATRIP SEC24C CLCN7 MEGF8 ARVCF P4HB CCBE1 NFIX GLI3 RECQL4 UFD1 SNX10 WDR35 MPLKIP GTF2H5 LRP5 AKT1 SMO CEP152 FGFR1 IFT122 FGFR3 CDT1 FGFR2 CDC6 DMP1 TMCO1 MAP3K7 PLK4 MED12 CDH11 TBX1 SMAD3 ALPL SON GP1BB PCNT
Lambdoidal craniosynostosis
Genes 11
MASP1 RAB23 IL11RA FGFR2 POR RECQL4 ZIC1 TWIST1 BMP4 ERF SEC24D
Metopic synostosis
Genes 6
SIX2 GLI3 WDR35 FREM1 SON PTCH1
Oxycephaly
Genes 5
MEGF8 RAB23 FGFR2 ZIC1 TWIST1
Premature closure of fontanelles
Genes 3
SIX2 ERCC1 CTSD
Scaphocephaly
Genes 19
PEX19 OFD1 KRAS IL11RA DPH1 IFT140 GLI3 IFT43 ARCN1 IFT122 TRAIP CNTN1 TBC1D7 FBN1 FBN2 TWIST1 KPTN HSD17B4 IDS
Trigonocephaly
Genes 28
IL11RA ACTG1 MSX2 FLCN SLC6A9 DPH1 FLI1 ASXL1 IFT140 CHD4 FGFR1 C2CD3 FGFR2 DPF2 PPP3CA SRCAP PTCH1 MEGF8 RB1 KLHL7 CD96 GLI3 PDHX FREM1 ZIC2 ACTB ARHGEF9 EFTUD2
Turricephaly
Genes 32
RAB23 PEX1 SLC25A24 SLC12A6 IL11RA PEX5 MSX2 SEC24D FAM20C FGFR1 FGFR3 FGFR2 ERF RREB1 COMT SEC24C FHL1 SKI MEGF8 ARVCF P4HB JMJD1C TBX1 RECQL4 UFD1 ZIC1 HIRA TWIST1 GP1BB FERMT1 SP7 GPX4