Protocol Number: 05-HG-0152

Title:

Variation in Gene Expression in Neurofibromatosis Type 1

Number:

05-HG-0152

Summary:

This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others. The study will also examine medical problems in NF1 that are rarely seen and are not well understood.

Male and female patients with NF1 who have gone through puberty may be eligible for this study, as well as patients of any age who have unique or under-recognized disease features. Affected and unaffected family members, including parents, siblings, and more distant relatives, may also be enrolled. Candidates are screened with a discussion of medical history or review of medical records, or both. Participants undergo the following procedures:

Patients with NF1

- Physical examination and family history

- Photographs of the iris of each eye

- Photographs of the back, abdomen and thigh to count skin tumors

- Photographs of the face and body (with underwear on) to help track growth and appearance

- Magnetic resonance imaging (MRI) of the spine (This test uses a magnetic field and radio waves to look for tumors and curvature of the spine. The patient lies still in the scanner, a narrow cylindrical device, wearing earplugs to muffle loud knocking sounds that occur during the scan. A contrast material called gadolinium is injected into a vein through a catheter to enhance the images.)

- Blood draw for genetic studies

- Possibly a skin biopsy (with the use of numbing medicine, removal of a small sample of skin tissue) to grow cells in the laboratory

Patients with NF1 who have unique or under-recognized disease features

-Physical examination and family history

-Blood draw for genetic studies

-Possibly a skin biopsy

-Possibly additional tests, such as blood work, x-rays, photographs, MRIs, ultrasounds, or other tests

Unaffected family members

-Blood draw for genetic studies

-Brief skin and eye examinations

-Possibly a skin biopsy for cell culture

Families are asked to give permission for researchers to recontact them for follow-up information, additional blood samples, or follow-up visit.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION / EXCLUSION CRITERIA:

We will recruit post-pubertal male and female individuals who meet the widely accepted 1988 NIH criteria for neurofibromatosis type 1 (NIH Consensus Development Conference 1988).

At the PI's discretion, medical records will be reviewed prior to enrollment to exclude individuals with probable segmental or mosaic NF1.

We may at our discretion occasionally recruit individuals with unique or under-recognized features of NF1.

Practically, we expect that most individuals recruited to the study will be 18 years or older, however, we will include post-pubertal pediatric patients (e.g. generally 16 years and older).

For individuals less than 18 years of age, an AP film of the hand for bone age will be required.

Parents and siblings (especially if affected) will be recruited.

Special Instructions:

Currently Not Provided

Keywords:

Genetic Modifiers

Genotype

Phenotype

Neurofibroma

Single Nucleotide Polymorphism (SNP)

Neurofibromatosis Type 1

Pediatrics and Adults

Recruitment Keyword(s):

Neurofibroma

Neurofibromatosis Type 1

NF1

Condition(s):

Neurofibromatosis Type I

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, Spielman RS, Cheung VG. Genetic analysis of genome-wide variation in human gene expression.Nature. 2004 Aug 12;430(7001):743-7. Epub 2004 Jul 21.

Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993 Aug;53(2):305-13.

Carey JC, Viskochil DH. Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders.Am J Med Genet. 1999 Mar 26;89(1):7-13. Review.

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