Genetic Analysis of Craniosynostosis, Philadelphia Type
| Status: | Completed |
|---|---|
| Conditions: | Other Indications, Neurology |
| Therapuetic Areas: | Neurology, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | January 2005 |
| End Date: | December 2008 |
Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222)
This study will try to find the gene changes responsible for the birth defects in
craniosynostosis, Philadelphia type. Craniosynostosis syndromes are a group of conditions
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, it compensates with growth in areas of the skull where
the joints have not yet closed. The defects in raniosynostosis, Philadelphia type, include
skull malformations and webbing of the fingers and toes. Gene changes known to be involved
in other craniosynostosis syndromes have not been found in the Philadelphia type syndrome.
Therefore, finding the genetic basis of this disorder will provide important new information
regarding craniofacial and limb development.
This study includes members of a single large family affected with craniosynostosis,
Philadelphia type.
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
craniosynostosis studies. Patients may also have their medical records reviewed.
craniosynostosis, Philadelphia type. Craniosynostosis syndromes are a group of conditions
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, it compensates with growth in areas of the skull where
the joints have not yet closed. The defects in raniosynostosis, Philadelphia type, include
skull malformations and webbing of the fingers and toes. Gene changes known to be involved
in other craniosynostosis syndromes have not been found in the Philadelphia type syndrome.
Therefore, finding the genetic basis of this disorder will provide important new information
regarding craniofacial and limb development.
This study includes members of a single large family affected with craniosynostosis,
Philadelphia type.
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
craniosynostosis studies. Patients may also have their medical records reviewed.
The objective of this study is to determine the molecular basis of craniosynostosis,
Philadelphia type. Previous studies by our lab have excluded FGFR1, FGFR2 and FGFR3, the
causative genes of most hereditary craniosynostosis syndromes. In the five generation
kindred previously reported we have conducted a genome-wide linkage analysis. We have
identified four regions linked to this disorder, namely on 2q, 12q, 20q and 22q.
Interestingly, syndactyly 1A, a phenotypically similar disorder, demonstrates an overlapping
linkage region in two studies. Screening of candidate genes in the redion has excluded ten
candidate genes, including IHH, IGFBP2 and IGFBP5.
This protocol is primarily for research purposes. Research subjects may receive benefit from
knowing that this research may help other families in the future. Results will be discussed
with the primary physician who is a trained medical geneticist. We will emphasize that these
are only preliminary findings, that they are not CLIA-approved, and must not be disclosed to
the patient or included in the medical record. Repeat testing in a CLIA-approved lab would
be required before the specific genetic information could be shared with the patient and
family.
Philadelphia type. Previous studies by our lab have excluded FGFR1, FGFR2 and FGFR3, the
causative genes of most hereditary craniosynostosis syndromes. In the five generation
kindred previously reported we have conducted a genome-wide linkage analysis. We have
identified four regions linked to this disorder, namely on 2q, 12q, 20q and 22q.
Interestingly, syndactyly 1A, a phenotypically similar disorder, demonstrates an overlapping
linkage region in two studies. Screening of candidate genes in the redion has excluded ten
candidate genes, including IHH, IGFBP2 and IGFBP5.
This protocol is primarily for research purposes. Research subjects may receive benefit from
knowing that this research may help other families in the future. Results will be discussed
with the primary physician who is a trained medical geneticist. We will emphasize that these
are only preliminary findings, that they are not CLIA-approved, and must not be disclosed to
the patient or included in the medical record. Repeat testing in a CLIA-approved lab would
be required before the specific genetic information could be shared with the patient and
family.
- INCLUSION CRITERIA:
This research includes only craniosynostosis Philadelphia type patients and members of a
single family who were previously referred to us and other family members who have since
displayed interest in participating in this study.
EXCLUSION CRITERIA:
Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of
their children as minors) or assent.
Medical condition(s) are not in themselves reason for exclusion if in the judgment of the
referring physician this would involve no more than minimal risk.
We generally reviewed a brief clinical description from the referring physician about a
potential research subject to determine that the subject was appropriate to enter into the
study. We reserved the right to exclude cases that were clearly not related to our direct
research interests. For new participants, we will review the clinical description from the
referring physician and we reserve the right to exclude cases.
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