HUM-MOLGEN archive: DIAG: 11 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 11 professional requests: 1) Osteodysplastic primordial dwarfism 2) Spondyloepiphyseal dysplasia tarda 3) Fraser and Jeune syndromes 4) Rothmund-Thomson Syndrome 5) Elejalde syndrome 6) Fabry's Disease 7) Familial patent ductus arteriosus and unusual facies 8) Name change "Helix" is now "GeneTests" 9) Robinow Syndrome 10) Congenital nephrotic syndrome 11a) Thrombocytopenia-absent radius syndrome 11b) Osteolysis of the carpal bones with nephropathy 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) Osteodysplastic primordial dwarfism We have 4 children from three different non-consanguineous families with osteodysplastic primordial dwarfism. We were interested in finding interested scientists who are working on finding the gene or genes for these disorders. Some of the families may be interested in participating in a research study. Please contact me at the following address: Jennifer Ivanovich, MS Genetic Counselor Washington University School of Medicine 660 S. Euclid Ave. St. Louis, Missouri 63110 USA telephone: 314-454-6093 fax: 314-454-2075 email: ivanovich@a1.kids.wustl.edu Thank you, Jennifer Ivanovich ************************************* 2) Spondyloepiphyseal dysplasia tarda We have recently identified the SEDL gene causing spondyloepiphyseal dysplasia tarda (Late-onset) - MIM 313400, Gedeon et al Nature Genetics Aug '99. We would like to welcome new clinical/laboratory collaborators for the purpose of identifying the mutations in additional families . We are also looking for additional families with bilateral osteoarthritis conforming to an X-linked mode of inheritance. We would be pleased to discuss alternative possibilities in the molecular genetic analysis of autosomal SEDL families that have been shown not to have collagen mutations. If you have seen/ know of any such families, please do not hesitate to contact us. Written informed consent is needed for each participant. Looking forward to fruitful collaborations. Yours Sincerely, Agi Gedeon Ph.D. Dr. Agi K. Gedeon, Senior Hospital Scientist, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, SA 5006. email: agedeon@mad.adelaide.edu.au phone: int + 8 8204 7023 fax: int + 8 8204 7342 ********** 3) Fraser Syndrome (OMIM 219000) and Jeune syndrome (OMIM 208500). We are searching for additional patients/families suitable for the homzygosity mapping of Fraser (cryptopthalmos/syndactyly) Syndrome - (OMIM 219000) and Jeune (asphyxiating thoracic dystropy) syndrome (OMIM 208500). If it is possible you would be able to obtain blood/DNA for such a study please contact Dr. Lesley McGregor (l.mcgregor@ich.ucl.ac.uk) or Prof Peter Scambler (postal address below). Many thanks -- Prof. Peter Scambler, Room 211, Molecular Medicine Unit, Institute of Child Health, 30 Guilford St., LONDON WC1N 1EH UK Tel 44 207 905 2635 (or 242 9789 x2635) Fax 44 207 831 0488 (or 404 6191) alternative email p.scambler@ich.ucl.ac.uk pscamble@hgmp.mrc.ac.uk http://www.ich.ucl.ac.uk/ (see Academic Units - Molecular Medicine) ********** 4) Rothmund-Thomson Syndrome Dear Colleagues, We are conducting research on the biology and genetic basis of Rothmund-Thomson Syndrome (RTS) which is a rare medical disorder characterized by poikiloderma, small stature, skeletal dysplasias, juvenile cataracts, and increased risk of certain types of cancers. Mutations in the RTS gene have recently been identified, and we are performing mutational analysis on a research basis on patients with RTS. We are also interested in better defining the clinical phenotype and appropriate medical management of these patients, and are pursuing genotype-phenotype correlation studies and determining whether genetic heterogeneity exists for this disorder. We are identifying patients and families with Rothmund-Thomson syndrome anywhere in the U. S. or internationally. Please contact Dr.Sharon Plon or Dr. Lisa Wang at Baylor College of Medicine, Houston, TX. E-mail: splon@bcm.tmc.edu or llwang@bcm.tmc.edu Phone (1-800-CANCER-9 or 713-770-3334) Fax (713-770-4202). Please visit our website at http://www.tccc.tch.tmc.edu/disease/rts/ ********** 5) Elejalde syndrome We have a child with Elejalde syndrome (Melanolysosomal neurocutaneous syndrome). He is 9 years old. The family is interested in submitting a sample for research to an interested scientist who is actively looking for the gene. Please contact Jennifer Ivanovich, MS Genetic Counselor Medical Genetics Washington University School of Medicine One Children's Place St. Louis, MO 63110 314-454-6093 fax 314-454-2075 email: ivanovich@a1.kids.wustl.edu ********** 6) Fabry's Disease I'm looking for information of clinical trials in the U.S. or Europe for Fabry's Disease. Heard that two commercial entities are working on a therapeutic replacement for A Gal. Are clinical trials still on going? Where can we get additional information regarding the trials? thanks in advance. Elizabeth Ingulli M.D. U of MN Nephrology e-mail: ingul001@maroon.tc.umn.edu ********** 7) Familial patent ductus arteriosus and unusual facies I would like to know if there are researchers interested in getting DNA >from a family here at the Department of Human Genetics, University of Bonn. The family contains a four person sibship (three sisters and one brother) all of the sisters presenting with a patent ductus arteriosus Botalli at birth. Surgical treatment of the patients has been performed around the age of five. The cardiac follow-up thereafter has been unremarkable. The son of the unaffected brother presented with a complex congenital heart defect including ASD, VSD, TGV and a patent ductus artiosus. The father of the above mentioned four childreen has had a cardioangiography done 2 years ago which revealed normal results. The mother is free of cardiac symptoms, but detailed investigations for silent heart abnormalities have not been undertaken so far. Searching the literature I have found an article by Florence Char (Birth Defects, 1978) where the familial occurence of a patent ductus arteriosus was associated with certain facial peculiarities. Since this report six more families have been published. The characteristical features of the face mainly comprised flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, flat profile and a high forehead. In our family we observed similar facial features. Kristin Bosse, MD bosse@MAILER.MEB.UNI-BONN.DE ********** 8) Name change "Helix" is now "GeneTests" I was pleased to read about the expansion of the somatic mutation database. I wanted to let you know that Helix has changed its name and URL to GeneTests and www.genetests.org. It might be helpful to your readers to let them know of this change, which occured in March 1999, as they may not get a forwarding address from our old server. Thanks very much! Roberta A. Pagon, M.D Professor of Pediatrics University of Washington School of Medicine GeneTests (www.genetests.org) ********** 9) Robinow Syndrome I am doing some research on a rare syndrome known as Robinow Syndrome. I Am wondering if you know of any cases of Robinow syndrome in Israel? I am Also wondering if you are doing any genetic research for this syndrome? I am hoping to find some researchers that are interested in helping to locate a gene for this very diverse syndrome that is found around the world. If you are able to help with any information it would be of great appreciation. Thanks Kim Ortiz Board Member of the Robinow syndrome foundation KimsMTline@aol.com ********** 10) Congenital nephrotic syndrome Who is interrested in samples from a baby with congenital nephrotic syndrome? The patient is the first child of consanquinous turkish parents. We are interrested in linkage analysis or mutation screening Elisabeth Steichen, M.D. Dept. of Pediatrics Innsbruck, Austria Phone-++43/512/504/3600 Mail: Elisabeth.Steichen&uibk.ac.at. ********** 11a) Thrombocytopenia-absent radius syndrome 11b) Osteolysis of the carpal bones with nephropathy We have two families who are interested in participating in research. 1) Thrombocytopenia-absent radius syndrome We have seen a family in which inheritance appears to be autosomal dominant with reduced penetrance/variable expression. There are two clearly affected cousins, the mother of one has short-appearing forearms, as does the common grandmother. The father of the other cousin has no obvious phenotypic manifestations. 2) Osteolysis of the carpal bones with nephropathy We have seen a fairly large family with several members with this condition. Family interested in participating in research studies which are trying to localize the gene. Contact: Helga V. Toriello, Ph.D. Genetics Services 21 MIchigan St., Suite 465 Grand Rapids, MI 49503 USA Phone: 616-391-2700 Fax: 616-391-3114 Email: helga.toriello@spectrum-health.org ************************************************************************ 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"