HUM-MOLGEN archive: DIAG: 4 messages, 2 patient requests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessages, 2 patient requests: 1. Idebenone in Leber?--Pt Request 2. Hereditary neuralgic amyotrophy (HNA) 3. SPECTRAL KARYOTYPING OF SMALL CHROMOSOMAL REARRANGEMENTS 4. GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ================================================================== 1. Idebenone in Leber Hereditary Optic Neuropathy?--2 similar Pt Requests Apparent Pt Locations: Netherlands and US REPLY DIRECTLY TO HUM-MOGEN My friend has the LHON disease and his vision is now 5%. I understood that there are some results with Coenzyme Q10 and the same kind of drug called "Idebenone". Is there anybody who has heard about this drug in combination with LEBER (LHON). And if so can you inform me where I can found more information. Thank you very much. ================================================= 2. Hereditary neuralgic amyotrophy (HNA) Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by unspecific infections or immunization, or are associated with parturition. Minor facial dysmorphic features are present in some pedigrees but do not clearly segregate with the disease. To confirm the recently described HNA locus on distal chromosome 17q, we performed a genetic linkage study in an extended Turkish pedigree. We were able to refine the HNA locus on chromosome 17q24-q25 in a 16 cM region (Stögbauer et al., Hum.Genet. 99:1997:685-687). In order to further refine the locus we are searching for more HNA families to find more recombination events. We would be grateful for collaboration with other groups who are aware of HNA families. Please contact: Florian Stögbauer Klinik und Poliklinik für Neurologie WWU Münster Albert Schweitzer Str. 33 48129 Münster, Germany +49-251-8348178 stogbau@uni-muenster.de ============================================================== 3. SPECTRAL KARYOTYPING OF SMALL CHROMOSOMAL REARRANGEMENTS The National Human Genome Research Institute is recruiting subjects for spectral karyotype analysis. This technique uses combinatorial labeling by fluorescent dyes and computer spectral analysis to detect small chromosomal aberrations. The study involves a pre-enrollment record review. Eligible subjects will be offered a paid trip to Bethesda for clinical evaluation and specimen collection. The eligibility criteria include: 1. Proband has an abnormal karyotype, usually a derivative chromosome for which the translocated material is of unknown origin. Both parents have been karyotyped and the source of the material is still not clear. 2. The proband has some phenotypic abnormality (dysmorphic, medical, developmental, or behavioral) that is judged to be due to segmental aneusomy. 3. The subject and both parents are willing to participate and the subject and at least one parent are willing to travel to Bethesda. Principal Investigators Leslie Biesecker, M.D., 301-402-2041, Email: leslieb@helix.nih.gov Thomas Ried, Ph.D., 301-594-3118, Email tried@nhgri.nih.gov 49 Convent Dr. Room 4A80 Bethesda, MD 20892 If you have a patient who you think may be eligible for this study please contact the Study Coordinator: Ann C. M. Smith, MA, CGC, 301-402-2011 Email: acmsmith@nhgri.nih.gov Medical Genetics Branch, NHGRI 10 Center Drive, MSC 1267 Bldg 10, Room 3D53 Bethesda, MD 20892-1267 301-402-2011 Email: acmsmith@nhgri.nih.gov ======================================================================= 4. GREIG CEPHALOPOLYSYNDACTYLY SYNDROME The National Human Genome Research Institute is soliciting patients with Greig Cephalopolysyndactyly syndrome for a research study. The purpose of the study is to perform clinical and molecular characterization of sporadic and familial cases of this disorder. Subjects accepted into the study will receive paid travel to the NIH, a medical genetics evaluation, appropriate imaging studies, and specimen acquisition for development of clinical diagnostics and genotype-phenotype correlation. For information on eligibility and details about the study please contact: Principal Investigator: Leslie Biesecker, M.D., 301-402-2041 or leslieb@helix.nih.gov Mailing address: 49 Convent Dr., Bldg 49 Room 4A80, Bethesda, MD 20892 Study Coordinator: Kathy Peters, M.S. Medical Genetics Branch, NHGRI 10 Center Drive Bldg 10, Room 10C101 Bethesda, MD 20892 301-402-9653 Email: kpeters@nhgri.nih.gov PLEASE NOTE AS OF JANUARY, 1997: We are now OFFICIALLY the National Human Genome Research Institute (NHGRI). PLEASE NOTE NEW EMAIL ADDRESS. Ann CM Smith, M.A., CGC Translational Research & Laboratory Support Unit Protocol and Laboratory Support Core Medical Genetics Branch, NHGRI-NIH BLDG 10, Room 3D53 10 Center Drive, MSC 1267 Bethesda, MD 20892-1267 >NIH office: 301-402-2011 >NIH FAX 301-435-3495 (NEW FAX) >NIH email acmsmith@nhgri.nih.gov >BEEPER 202-539-4091 (at the tone enter your telephone number with >AC and then the # sign > >Home/PRISMS/FAX 703-709-0568