Ignite Creation Date:
2024-05-05 @ 4:52 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00339846
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2006-06-19
Brief Title:
Genetic Analysis of Craniofrontonasal Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Craniofrontonasal Syndrome
Status:
COMPLETED
Status Verified Date:
2008-09-17
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study will determine whether all patients with craniofrontonasal syndrome CFNS have a mutation of a gene called ephrin-B1 EFNB1 CFNS is one of a group of conditions called craniosynostosis syndromes that result from closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete Because of the premature closure the brain is not able to grow in its natural shape instead there is growth in areas of the skull where the joints have not yet closed In CFNS it results in malformation of the skull and face It is known that the EFNB1 mutation can cause CFNS and this study will see if the gene change is present in all patients with the disorder
This study includes patients and family members affected with CFNS Participants have 1 to 2 teaspoons of blood drawn for genetic studies A second blood sample may be requested for further research Some blood may be used to establish a cell line for later studies This involves growing the white blood cells from the blood sample The cells can be kept in the laboratory to make more DNA or can be frozen for later use in studies of craniosynostosis Patients may also have their medical records reviewed to relate gene changes to clinical features in CFNS
This study includes patients and family members affected with CFNS Participants have 1 to 2 teaspoons of blood drawn for genetic studies A second blood sample may be requested for further research Some blood may be used to establish a cell line for later studies This involves growing the white blood cells from the blood sample The cells can be kept in the laboratory to make more DNA or can be frozen for later use in studies of craniosynostosis Patients may also have their medical records reviewed to relate gene changes to clinical features in CFNS
Detailed Description:
The scientific objective of this study is to determine if all patients with Craniofrontonasal Syndrome CFNS contain mutations in the ephrin-B1 EFNB1 gene in Xq12 We will use mutational analysis of EFNB1 as our principal tool to study the genetics of CFNS Previously we had mapped the CFNS locus to a 13 cM region in Xp22 using linkage analysis of 12 unrelated CFNS families with 2 or more affected family members in 2-4 generations More recently there have been two reports that 23 independent CFNS patients all have mutations in the EFNB1 located at Xq12 Hence either CFNS displays genetic heterogeneity with at least two genes one in Xp22 and EFNB1 or our previous linkage analysis was inaccurate and all CFNS patients have EFNB1 mutations
We have previously collected a large number of coded blood samples from patients with DFNS We propose to sequence the EFNB1 in all 12 of our previously published CFNS families as well as 6 additional families 22 sporadic CFNS patients and two CFNS patients with chromosomal anomalies
We will be sending letters to all physicians who have referred CFNS patients to us in the past for molecular studies This letter will outline the recent developments identifying EFNB1 as the CFNS gene We would like to utilize the referring physicians as liaisons between our lab and CFNS patients Through the referring physicians we will invite the patients and their families to join a new study if they are interested in obtaining their genetic testing results All of our results will be confirmed by a CLIA-certified lab prior to being given to patients or referring physicians
We have previously collected a large number of coded blood samples from patients with DFNS We propose to sequence the EFNB1 in all 12 of our previously published CFNS families as well as 6 additional families 22 sporadic CFNS patients and two CFNS patients with chromosomal anomalies
We will be sending letters to all physicians who have referred CFNS patients to us in the past for molecular studies This letter will outline the recent developments identifying EFNB1 as the CFNS gene We would like to utilize the referring physicians as liaisons between our lab and CFNS patients Through the referring physicians we will invite the patients and their families to join a new study if they are interested in obtaining their genetic testing results All of our results will be confirmed by a CLIA-certified lab prior to being given to patients or referring physicians
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-HG-N029 | None | None | None |