HUM-MOLGEN archive: DIAG: 7 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 7 professional requests: 1) Request for families with hereditary glomus tumors 2) Connective tissue disorder 3) Panniculitis in cystic fibrosis patient 4) Rubinstein-Taybi syndrome 5) Retinitis pigmentosa/diabetic retinopathy 6) Trisomy 18 mosaic 7) Anterior horn cell degeneration 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 families with hereditary glomus tumors We have established a potential genetic linkage for a family with autosomal dominant glomus tumors (OMIM 138000). These are the cutaneous neoplasms consisting of multiple layers of glomus cells lining blood filled cavities, not be to confused with paragangliomata, which are sometimes also called glomus tumors. The study is approved by the Human Subjects committee of the Duke University Medical Center. If anyone knows of any multiple generation families that would be interested in a genetic linkage study, please contact... Douglas Marchuk, Ph.D. Department of Genetics Room 277 CARL Building Duke University Medical Center Durham, NC 27710 march004@mc.duke.edu Tel 919 684-3290 FAX 919 681-9193 ********** 2) Connective tissue disorder I am a clinical geneticist in Canada. I recently saw a 45 year old man who has had several ruptures of flexor tendons, occuring over the last 15 years. They occur primarily in his hands, usually following moderate trauma, such as after moving a heavy bookshelf. He has had numerous operations to repair the tendons, and now has limitation of movement in his wrists and fingers. He also had rupture of an ankle tendon as a result of a fall. This gentleman has no other features of a connective tissue disorder on physical exam or history. His scars are well healed and his skin is normal, no bleeding diathisis, no joint problems (except post surgery) and no eye problems. Heart is fine. He will be having surgery on Oct. 22, 1998. Does anyone have a clinical hypothesis? Does anyone want a tissue sample for study re: collagen abnormalities? Thank you for your help. Lea Velsher, MD, FRCPC e-mail: lvelsher@IDIRECT.COM ********** 3) Panniculitis in cystic fibrosis patient I am a pediatrician involved in Cystic Fibrosis care. I was recently reported of a patient with panniculitis (Weber-Christian disease) and pancreatic pathology suggesting Cystic Fibrosis. Panniculitis may occur as a complication of pancreatic disease. I wonder if any other has experience of panniculitis occurring in CF or of panniculitis associated to pancreatic changes suggesting CF. Many thanks Luca Romano, MD, PhD CF Centre Gaslini Institute Largo Gaslini, 5 I-16147 Genova Italy E-mail: lromano@mclink.it ********** 4) Rubinstein-Taybi syndrome Is there anyone working on molecular studies of Rubinstein-Taybi syndrome. Dr. M. Pineda S. Neuropediatria Hospital Sant Joan de Dèu Passeig Sant joan de Deu nº2 08950 Esplugues . Barcelona. Spain. pineda@HSJDBCN.ORG ********** 5) Retinitis pigmentosa/diabetic retinopathy I would like to post a query to human geneticicists who are collecting registers of patients with Retinitis pigmentosa. 1: How many of your patients have IDDM 2: of these how many have retinopathy? I am conducting research on the causation of diabetic retinopathy, and believe that the anoxia in the retina caused by rod activity is an important factor in the development of diabetic retinopathy. G.Arden e-mail: g.arden@ city.ac.uk Fax +44 171 477 8355 Applied Vision Research Centre City University Goswell Rd. London EC1 V 7DD ********** 6) Trisomy 18 mosaic We have an 18 month old male who presented with developmental delay and has 70% Trisomy 18 in his blood (skin has not been assessed). The family is interested in more information. N.J. Leonard Assistant Professor/Medical Geneticist Department of Medical Genetics University of Alberta Hospital 853 Medical Sciences Building Edmonton, Alberta CANADA T6G 2H7 phone (403) 492-4077 fax (403) 492-6845 email norma.leonard@ualberta.ca ********** 7) Anterior horn cell degeneration I have a pedigree of an American midwestern family with adult onset weakness in the extremities (beginning typically in hands, progressing to feet, legs, respiratory, etc until death ). age of onset: 27-32 yrs; age of death: variable (can be over 60 yrs) It has been suggested (by family physician?) that this represents an uncharacterized anterior horn cell degeneration. Mode of inheritance is classical autosomal dominant with full penetrance. I have DNA (periph blood) on all but 1 proband (6/7), and on several other family members (not the younger, presymptomatic generation, although I believe they are willing to cooperate in a study). Currently, there are 3 generations living, however, the remaining proband in the grandparental generation is not expected to live much longer. I am trying to arrange an autopsy, and will bank as much nerve, brain and muscle as possible. Is anyone looking at pedigrees like this? Particularly, is anyone doing a linkage/positional cloning project? susan c burghes ms neurogenetics laboratory dept. medical biochemistry ohio state univ 363 hamilton hall 333 neil ave columbus, oh 43210 usa t: 614-293-4163 f: 614-292-4118 e: burghes.2@osu.edu ************************************************************************ ---------------------------------------------------------------------------- --------------- HUM-MOLGEN - Internet Communication Forum in 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"