HUM-MOLGEN archive: DIAG: 11 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 11 professional requests: 1) Cystic Fibrosis mutation, D1152H 2) Setleis Syndrome 3) Geleophysic Dysplasia 4) Marfan syndrome - growth charts 5) Rothmund-Thomson Syndrome 6) Black tailed prairie dog, Cynomys ludovicianus, karyotype 7) NF2 patients 8) Protein C deficiency. 9) Prostate Cancer family 10) Dysplasia spondylo-epiphysaria congenita 11) Availability of DNA samples for anonymized research 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) Cystic Fibrosis mutation, D1152H We are seeking collaborators to participate in a genotype-phenotype study of the CFTR exon 18 missense mutation, D1152H. This mutation was first identified at the University of North Carolina at Chapel Hill and was presented as a Hot Science poster at the 1992 North American CF Conference (CFGAC Newsletter #49, Sept. 29, 1992). The index cases were three siblings notable for their extremely mild clinical presentations as well as their advanced age (60's to 70's). Subsequently we have found this mutation among numerous normal-sweat patients with very mild lung disease of a variable nature and/or men with congenital bilateral absence of the vas deferens (CBAVD). It's prominent role in CBAVD was described by poster presentations at last year's meeting in Montreal as well as at the 1998 American Society of Human Genetics meeting in Denver. Additionally, recent work by Harry Cuppens has demonstrated reduced whole cell chloride currents when a D1152H-bearing CFTR cDNA vector is expressed in Xenopus oocytes. Hardly any commercial laboratories screen for D1152H, and few, if any, academic institutions beyond UNC specifically test for this mutation. It is likely this limited scrutiny has prevented recognition of this mutation as having sufficient prevalence to warrant further research and, potentially, a higher clinical profile. Interested laboratories who have already identified individuals with D1152H are requested to contact us for a clinical data submission form for each patient. Labs who have not looked for D1152H but are interested in testing for it may contact us for a straightforward assay. Once collaborators have been identified, control population information will be sought. Sincerely, Kenneth Friedman, Ph.D., primary contact 919-966-0713 919-966-0717 (FAX) bluemold@med.unc.edu Lawrence M. Silverman, Ph.D. Michael R. Knowles, M.D. (Dep'ts of Pathology and Medicine, University of North Carolina at Chapel Hill, NC) W. Edward Highsmith, Jr., Ph.D. (Dep't of Pathology, University of Maryland, Baltimore, MD) ********** 2) Setleis Syndrome I would like to hear from anyone who has identified patients with the Setleis Syndrome. We are currently collecting DNA samples for a future gene mapping effort. We are specially interested in Setleis patients from Puerto Rican extraction, but samples from patients of different ethnic extrac tion will also be useful, especially from large affected families. Please contact me for a collaboration. Thanks for your help in this matter Carmen L. Cadilla University of Puerto Rico School of Medicine Dept. of Biochemistry PO BOX 365067 San Juan, PR 00936-5067 c_cadilla@rcmaca.upr.clu.edu ********** 3) Geleophysic Dysplasia I am a pediatrician taking care of two families with Geleophysic Dysplasia syndrome (one case in each family). I received a request of genetic analysis from both families: is anyone currently working on molecular genetics of this syndrome or does anyone know if such analysis is in progress? Thank you very much in advance, Luca Romano, MD, PhD CF Centre Gaslini Institute Largo Gaslini, 5 I-16147 Genova Italy E-mail: lromano@mclink.it ********** 4) Marfan syndrome - growth charts Could you tell me where I can find on-line growth charts of males and females with Marfan syndrome? Thanks Dr. Victor Grech Senior Registrar Paediatric Dept St. Luke's Hospital Malta victor.e.grech@MAGNET.MT ********** 5) Rothmund-Thomson Syndrome As part of a multidiscipline protocol at Baylor College of Medicine, my colleagues and I continue to search for individuals and families with the Rothmund-Thomson Syndrome. If you are aware of such families, please contact me at rlewis@bcm.tmc.edu or Dr. Sharon Plon in Pediatrics-Cancer Genetics at splon@bcm.tmc.edu. Thank you! Richard Alan Lewis M.D., M.S. Professor, Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics Cullen Eye Institute NC-206 Baylor College of Medicine 1 Baylor Plaza Houston, Texas 77030 E-mail: rlewis@bcm.tmc.edu; Voice: 713-798-3030; Fax: 713-798-3042 ********** 6) Black tailed prairie dog, Cynomys ludovicianus, karyotype Does anyone know if the black tailed prairie dog, Cynomys ludovicianus, has been karyotyped with banded chromosomes? The only report I have found in the literature is pre-banding. Hope Punnett; e-mail: punnett@auhs.edu ********** 7) NF2 patients Patients With Severe Phenotype of Neurofibromatosis Type 2 (NF2) - Call For Clinical Samples/Collaboration. Our group is studying the genetic mechanisms that cause NF2. We are particularly interested in the question of why the severity of NF2 varies from person to person. Previous studies suggested that different types of mutations in the NF2 gene itself are related to disease severity. However, the type of germ-line mutation does not fully explain the clinical variation of NF2 phenotype. Several independent lines of evidence suggest that other gene(s), as yet unknown, affect NF2 disease severity. These genes, since they would modify NF2 disease severity, are called "modifier gene(s)". Our hypothesis is that modifier gene(s) contribute to severe NF2, at least in some patients. To test this hypothesis, we need to increase the number of patients available for the molecular genetic analysis. We would like to obtain samples (30 ml of peripheral blood or at least 200 microgram of high molecular weight DNA) from unrelated patients with severe or moderate NF2. Because our hypothesis is that modifier genes affect severe NF2, patients with mild NF2 are not included. Mild NF2 is defined as vestibular schwannomas only (without other tumors such as spinal/peripheral schwannomas and meningiomas of various locations), age of onset of symptoms over 25-30 years old, and slow tumor growth. Patients can be either sporadic or familial NF2 patients. For familial patients, where there is more than one patient in the family, we need a sample from only one patient in the family. These samples could be sent to us by Federal Express/United Parcel Service, and we will cover the costs of shipment. However, before sending samples, we would like to be contacted by interested scientists/clinicians. Contact information is provided below. Thank you in advance for your interest in our study! Jan Dumanski, Dr.Med.Sc. Associate Professor of Medical Molecular Genetics Dept. of Molecular Medicine, Clinical Genetics Unit Karolinska Hospital, CMM building L8:00, S-17176 Stockholm, Sweden phone: +46-8-517 72229 (office), or +46-8-517 73922 (lab) fax: +46-8-517 73909 Email: Jan.Dumanski@cmm.ki.se http://www.ki.se/cmm/dumanski.htm ********** 8) Protein C deficiency. I am a hematologist in Seoul National University Hospital, Korea. I am studing inherited protein C deficiency. I confirmed genetic mutation via gene sequencing about several cases. What I want to know is whether these cases are novel cases or not. please tell me if you know about this. Nucleotides are numbered according to the nucleotide numbering of Foster et al (Foster DC et al. Proc Natl Acad Sci USA 1985; 13: 5233) case 1. exon 8, T7196C, result: TCC(Ser)¡æCCC(Proline) case 2. exon 8, T7242A, result: CTC(Leu)¡æCAC(Histidine) case 3. intron site between exon 7 and 8, CG(6290, 6291)¡æGC In case 3, the patient was suffered from recurrent deep vein thrombosis at young age. His brother and sister are asymptomatic, but have lower protein C values. So I think this family has inherited protein C deficiency (type I). I sequenced all genome coding protein C of case 3. I found no mutation except this intron site mutation. I don't understand how this mutation causes such quantitive deficiency. I guess the splicing process is not adequate due to this mutation. If you have any idea, or know any fact, please tell me. I will wait your answer. Thank you for your kindness. Inho Kim (MD) jshim@snuh.snu.ac.kr Seoul National University Hospital Seoul, Korea ********** 9) Prostate Cancer family We have a family with prostate cancer. 5 brothers are affected in one generation - otherwise there appears to be no sign of prostate cancer elsewhere in the pedigree. Can any body lend a hand in defining the cause of this cluster. Thankyou Dr Raymond Clarke St George Hospital r.clarke@unsw.edu.au ********** 10) Dysplasia spondylo-epiphysaria congenita I am a physiotherapist of a child of 1,5 years with Dysplasia spondylo-epiphysaria congenita and I am intersted in having contact with you and other parents or physiotherapist which have experience with this disease. I have some questions: Do you have experience with Vojta-therapy or another kind of therapy of skoliois of little children? Which kind of therapy do you make with your child? Can you give me other adresses of specialists of this disease? Our doctor denies, that physiotherapy will be helpfull. He says we must wait, and later we have to make an operation. What do you think about this? Yours sincerely Edith w.heinlein@JPBERLIN.DE ********** 11) Availability of DNA samples The National Center for Health Statistics and the National Center for Environmental Health, two components of the U. S. Centers for Disease Control and Prevention, announce the availability of DNA samples for anonymized research from the Third National Health and Nutrition Examination Survey. A proposed application procedure and cost schedule appears for comment in the June 1, 1999 Federal Register. This information can be retrieved electronically at http://www.access.gpo.gov/su_docs/fedreg/a990601c.html. Audrey L. Burwell, M.S. Health Research Administrator Minority Health Statistics Grants Program National Center for Health Statistics/CDC 6525 Belcrest Road, Room 1100 Hyattsville, MD 20782 Website: http://www.cdc.gov/nchswww/about/grants/grants.htm Phone: (301) 436-7062, x127 FAX: (301) 436-4233 Email: AZB2@CDC.GOV MGP@CDC.GOV ************************************************************************ 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"