HUM-MOLGEN archive: DIAG: 13 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 13 professional requests: 1) Request for tissue from Fragile X patients: 2) 6p- and Dandy Walker Syndrome 3) Protein C deficiency 4) 5q- Syndrome 5) Sertoli-cell-only syndrome 6) 14q12 to 14q21 7) H-Ras mutations in bladder cancer 8) Klippel-Feil Syndrome 9) Unidentified syndrome 10) Retinitis pigmentosa with juvenile Parkinsonism 11) CADASIL 12) Familial myeloid leukemia 13) Jarcho-Levin syndrome REPLIES TO PROFESSIONAL REQUESTS SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Request for tissue from Fragile X patients: Our research interest is the functional characterization of FMRP, the gene product of the Fragile X disease gene. For our investigations, we are looking for scientists who have access to tissue samples from Fragile X patients. We are not restricted in gender or age of the patient, small amounts are sufficient. Please contact us, if you have material available or if know scientists who do. Your support will be credited. Dr. Bernhard Laggerbauer AG Dr. Utz Fischer Max-Planck-Institute for Biochemistry Am Klopferspitz 18 82152 Martinsried Germany laggerb@biochem.mpg.de ******************** 2) 6p- and Dandy Walker Syndrome I'm a Physical Therapist beginning work with a 2 1/2 month old boy with 6p- and mild Dandy Walker Syndrome, as well as coloboma effecting the eyes. I'm trying to find out more about these conditions and would appreciate any information. Thanks. Gary GWorden@TBAISD.K12.MI.US ******************** 3) Protein C deficiency I am the Director of Health Resource Center for Palestine. We currently have one patient, among hundreds of destitute Thalasemia and Hemophilia Patients inside Palestine applying for sponsorship to meet their medical needs, diagnosed with Protein C deficiency. HRCP has been requested to assist in procuring any information which may allow us to improve his patient care, including detailed information, latest treatment options and whether or not there are any current trials which this patient may be eligible for. I would like to note that we have yet to find a sponsor for this destitute patient. I would appreciate any and all information that anyone can provide on this subject in as timely a manner as possible. Regards, Lamyaa M Hashim, Chief Executive Director Health Resource Center for Palestine hrcpal@HOTMAIL.COM Health Resource Center for Palestine, Inc. is a tax-exempt US-registered and certified Not-for-Profit Organization dedicated to to the improvement of Health Care in Palestine and among Palestinian refugees in Lebanon via charitable means. Health Resource Center for Palestine, Inc 1313 S. Military Trail Suite 283 Deerfield Beach, FL 33442 USA tel: 1-561-445-1777 arabic/english tel: 1-561-445-4774 english/urdu ******************************************* 4) 5q- Syndrome Dear colleagues, we are involved in the investigation of the role of the long arm of chromosome 5 in the pathogenesis of myeloproliferative disease and are therefore very interested in obtaining DNA and or cell lines both from sporadic and familial cases with 5q- as well as from cases of secondary 5q- after cytostatic chemotherapy and are therefore looking for a collaboration on this subject. Best regards, Ulrich Mahlknecht, MD PhD J.W. Goethe-Universit$E4t Frankfurt am Main Medizinische Klinik III Abteilung fur Hematologie/Onkologie Theodor-Stern-Kai 7 60590 Frankfurt am Main Tel.: 069-6301-5235 bzw. 069-6301-5195 Fax: 069-6301-6131 E-Mail: umahlknecht@picower.edu ******************** 5) Sertoli-cell-only syndrome I am trying to help a young man who was investigated for infertility and found to have sertoli-cell-only syndrome. He has had a semen analysis which shows no spermatozoa. Bilateral testicular biopsy shows no germ cells present. He has an older brother who is well, and who is not yet married and has no children. He also has two sisters who each have healthy children. My patient is very anxious to know the etiology of his infertility. He also wants a cure. He wonders if we cannot simply fix his DNA. I am in the process of arranging a karyotype and FISH analysis of the Y chromosome. I am also banking DNA. Is there anyone who is interested in studying this man's sample? Is there anything I can offer him? Has anyone had experience of any level of fertility given this scenario? Thank you for your help. Lea Velsher MD, FRCPF Lakeridge Health Oshawa Oshawa, ON, L1G 2B9, Canada Fax 905 721-4757 Ph. 905 576-8711, ext. 4114 e-mail: lvelsher@idirect.com ******************** 6) 14q12 to 14q21 I am working in the lab of Dr. Diane Wilson Cox. Our lab has a long established interest and research productivity relating to human chromosome 14. This includes the organization and structure of disease related genes on chromosome 14. We are currently in need of obtaining cell lines or DNA samples from patients who have chromosomal rearrangements involving 14q12 to 14q21. We welcome any potential collaborative research. Can you contact me as soon as possible. Sincerely, Deepak Kamnasaran Department of Medical Genetics University of Alberta E-mail: dkamnasa@ualberta.ca FAX:1-780-492-1998 ******************** 7) H-Ras mutations in bladder cancer I would appreciate any help in obtaining samples (tissue, genomic dna, etc) from bladder cancer patients who exhibit h-ras mutations in either exon 1 or 2. Our lab is developing a novel assay to detect mutations in H-ras from bladder cancer patients. Through IRB at Mayo we will be running a number of in-house samples to this end. However, it is questionable whether any of these samples will be known positives for H-ras beforehand, and it would be a great help in the development process of having such samples to serve as positive controls. Of course, we'll most likely have to accumulate these controls by analyzing our material using conventional methods of detection. I thought is would shorten the process if I could acquire some genomic dna which was already known to be positive for H-ras mutations. William Taylor Mayo Foundation taylor.william15@mayo.edu ******************** 8) Klippel-Feil Syndrome We have a number of KFS families . Please contact me if you have an interest in the genetics of Klippel-Feil. Contact: r.clarke@unsw.edu.au Dr Raymond Clarke St George Hospital r.clarke@unsw.edu.au ******************** 9) Unidentified syndrome I have a patient with the following clinical characteristic: Male, 22 years old, was born with arm agenesia, micronagtia, epicantos eyes, ears and external auditive ducts misshapen and sensorio neuraI would like some information about this disorder. I Thank you very much for your attention. Yours Regards Adela Sembaj, PhD Catedra de Quimica biologica. Facultad de Ciencias Medicas UNC Cordoba. Argentina asembaj@biomed.fcm.unc.edu.ar ******************** 10) Retinitis pigmentosa with juvenile Parkinsonism I am a neurologist at the Regional Hospital Bolzano in South Tirol. Is anyone interested in four living siblings with retinitis pigmentosa with one sister suffering from juvenile parkinsonism (age of onset was 25). She presents an interesting clinical picture with for example green-seeing in her on-phase and tends to "watch through blue glasses" in her off-phase. We are looking forward expecting your answer, Bernhard Kis bernhard.kis@usa.net or neurolog@asbz.provinica.bz.it -- Regional Hospital Bolzano Department of Neurology Lorenz-B$F6hler-Str. 5 I-39100 Bolzano Tel.: +39-0471-908589 Fax.: +39-0471-908591 ******************** 11) CADASIL After having read an article "Informative crossover refines mapping of the CADASIL disease locus" by The Department of Neurology, Ludwig-Maximilians-University, Munich, Germany (sept. 1995) I would be pleased to know the most up-to-date diagnostic procedures concerning CADASIL and where an eventual neurogenetic determination could be made. Gunvor Gasser gasser@post10.tele.dk (Gunvor Gasser, doctor) ******************** 12) Familial Myeloid Leukemia I recently saw a 31 year old patient with Chronic Myeloid Leukemia (CML), whose mother recently developed Acute Myeloid Leukemia (AML, M4 with INV16), at 59 years of age. A sister of the CML patient is apparently healthy. DNA is available from the 2 patients as well as the sister. I would like to contact research groups interested in studying this cluster of familial myeloid leukemia, or with similar experiences. Carlo Gambacorti-Passerini MD Senior Investigator Director, Oncogenic Fusion Proteins Unit Istituto Nazionale Tumori Via Venezian 1 20133 Milano - Italy Tel +39.02.239-0818 Fax +39.02.239-0764 E-mail GAMBACORTI@ISTITUTOTUMORI.MI.IT http:www/cilea.it/tumori/Department/osd1.htm ******************** 13) Jarcho-Levin syndrome I am writing on this occasion in hopes of contacting someone who has experience in molecular analysis of Jarcho-Levin syndrome. I look forward to receiving some news Thank you Dr Alessandro Malandrini Institute of Neurological Sciences University of Siena Italy villanova@UNISI.IT ************************************************************************ HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ------------------------------------------------------------------------> "copyright HUM-MOLGEN"