HUM-MOLGEN archive: DIAG: 5 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 5 professional requests: 1) Osteodysplastic primordial dwarfism 2) Spondyloepiphyseal dysplasia tarda 3) Fraser and Jeune syndromes 4) Rothmund-Thomson Syndrome 5) Elejalde 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) 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 ************************************************************************ 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"