SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


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:
HP:0000248: Brachycephaly
Genes 245
SPECC1L LAS1L ESCO2 B3GAT3 FBN2 PRKCD PEX1 USP7 PRDM16 SLC12A6 NGLY1 GATA1 SMC3 OTUD6B EFNB1 PIGT SP7 CNTNAP2 ALX4 BRAF SKI EXT2 PDE4D FGFR3 POLR1D ATIC KCNAB2 GABRD LRP5 SETD5 TBC1D20 FGFR2 FBN1 ZIC1 UBE3B ATIC CR2 PNPLA6 HSPA9 RAF1 ZBTB20 DPH1 TWIST1 TNFSF12 RUNX2 ATP7A CYP26B1 TWIST1 SMS RERE HDAC8 TGFB3 FGFR2 ESCO2 ADAMTSL1 CTSK ZSWIM6 MED13L KMT2A FUCA1 PIGW TMCO1 TWIST1 PTCH2 RECQL4 ALG9 RAI1 MIR140 TRAPPC9 RAD21 CD81 TNFSF12 SIM1 RAB3GAP1 BUB1B B3GLCT SATB2 PIGO ALDH18A1 SETD5 NIPBL RAB3GAP2 PCGF2 NRXN1 MECP2 PGAP3 ACOX1 TUBB NFKB2 ADAMTS10 UNC80 FKBP10 FGFR2 LMX1B SRD5A3 MAF PTRH2 GRIA3 EHMT1 AMER1 PQBP1 RAB3GAP2 FGFR3 STAC3 TNFRSF13C TBL1XR1 TNFRSF13B TBC1D24 ICOS SLC25A24 IL11RA ZDHHC9 POR NFKB1 MED13L RAB18 LIG4 POLR1C PTPN11 TWIST1 RAB23 MBD5 SMC3 UBE3B ADSL SETD5 RMRP PIGL EHMT1 ALX1 RAB3GAP2 ADNP ATRX SMC1A RAI1 TBX2 FGFR3 FLII TTC8 INTU NEK1 MGAT2 MMP2 CHST14 FGFR2 RBM8A USP9X GJA1 TECPR2 FAM20C ADSL STXBP1 ZSWIM6 IQSEC2 GRIA3 TBL1XR1 TCF20 PNPLA6 NALCN HCFC1 RNF216 USP9X IRX5 CHST3 FGFR2 FGFR3 PIGV SKI SUFU FGFR2 FGFR1 WASHC5 RMRP OTUD6B PRKAR1A PIGL FGFR2 UPF3B MMP2 PIGY PCLO CDK10 AGA TCF12 POR NBAS TMCO1 CDH11 TCOF1 MS4A1 ZIC1 FGFR3 IQSEC2 FGFR3 MEGF8 PIGT RAI1 PGAP2 PDE4D WAC TECPR2 FGFR2 CCDC47 PRKAR1A EFNB1 POGZ PTCH1 FHL1 DSE CDH11 DEAF1 PHF21A COL11A1 SETBP1 ERF HDAC8 NANS CD19 MMP14 TAPT1 TDP2 CTU2 BMP4 PTH1R SLC25A24 MED12 FGFR2 MSX2 FGFR2 XRCC4 AUTS2 KDM1A FGFR1 ALG9 ALX4 POGZ HUWE1 RECQL4 SYT1 PIGL NIPBL FGFR2 FKTN UBE3A SMC1A
Protein Mutations 0
SNP 0