HUM-MOLGEN archive: 6 messages (2 PT. REQ.)

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 6 submessage(s): 1) Jeune syndrome (asphyxiating thoracic dystrophy) 2) Canavan Disease/ PT REQ. 3) Smith Simon Leon Liopit/ PT REQ. 4) unstable DNAs/tumors 5) SYNPOLYDACTYLY (Syndactyly TypeII) 6) Hermansky-Pudlak syndrome Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** Dear Colleague, We have identified a two-year old boy with mild Jeune syndrome (asphyxiating thoracic dystrophy). He has the typical radiographic and clinical features but is at the mild end of the spectrum of disease. He has not had any respiratory difficulties and is not significantly growth retarded. In addition, he has low-grade hepatitis with non-specific abnormalities on liver biopsy; this is a well-recognised feature of Jeune syndrome. His renal function is normal but may deteriorate within the next few years. His white cell count is normal. This boy has developed epilepsy and has very low immunoglobulin levels. These are not recognised associations of Jeune syndrome. Do you have any experience of these complications in this disorder? I would value your comments. Yours sincerely, Graeme Suthers. ________________________________________________________________________ Dr Graeme Suthers SA Clinical Genetics Service Centre for Medical Genetics Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA tel (08) 204 7375 (International prefix -61-8-) fax (08) 204 6088 (International prefix -61-8-) email suthersg@wch.sa.gov.au (Using MSmail should you want to attach a file) >> Please note new email address << ************************************************************** I have a granddaughter with Canavan Disease. Researchers at Yale have the gene and are contemplating experimental surgery. I have a vested interest, what kinds of information can you supply. Anything of even a general interest will be greatly appreciated. Thanks ahead of time. *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** ************************************************************** I need information about human syndrome Smith Simon Leon Liopit. About the patient that ask you (Smith Simon Leon Liopit), I must tell you he is my son. He's one year old. The diagnostic had be made recently and I've no information about it. I'm sorry for my not good english. *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** Apparent patient location: Argentina ************************************************************** >Subject: unstable DNAs > >We are seeking DNAs from human tumors manisfesting microsatellite instability for collaborative mutational studies. If you have such DNAs or primary tumors, please contact me. Thank you very much. Stephen J. Meltzer Associate Professor of Medicine University of Maryland smeltzer@umabnet.ab.umd.edu ************************************************************** SYNPOLYDACTYLY (Syndactyly TypeII): Our group is studying dominant synpolydactyly (OMIM 186000), which has been mapped to chromosome 2q31. We are keen to hear of further patients (with syndactyly of 3rd/4th fingers and 4th/5th toes, and extra digit in syndactylous web), who would be willing to provide blood samples to assist us in our project to find and analyse mutations in the synpolydactyly gene. Please contact: Dr. FR Goodman (Molecular Medicine Unit) or Prof RM Winter (Clinical Genetics Unit) Institute of Child Health, 30 Guilford St., London WC1N 1EH UK tel 44 171 242 9789 Ext 2432 fax 44 171 831 0488 email rwinter@ich.bpmf.ac.uk ************************************************************** My laboratory has recently mapped the gene for Hermansky-Pudlak syndrome (HPS), and it is likely that the gene will be cloned in the very near future. We are interested in receiving samples from non-Puerto Rican patients with HPS for mutation analysis on a collaborative basis. Interested persons may contact: Richard A. Spritz, M.D. Professor of Medical Genetics and Pediatrics Laboratory of Genetics University of Wisconsin 445 Henry Mall Madison, WI 53706 USA Tel. 608-262-2832 FAX 608-262-2976 Email raspritz@facstaff.wisc.edu