HUM-MOLGEN archive: DIAG: 6 messages (1 PT REQ.)

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 6 submessage(s): 1) amnio report of 46,XY,inv(7)(q21.?2q22.?3) 2) Muscle biopsy transportation 3) Nail-Patella Syndrome 4) mutations in the dystrophin gene 5) translocation 12;4/amniocentesis/ *PT. REQ.* 6) Hereditary angioneurotic oedema Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** A friend just got an amnio report of 46,XY,inv(7)(q21.?2q22.?3). Their genetic counselor (accurately) told them the fetus could have Ehlers-Danlos or osteogenesis imperfecta. Level II U/S was normal. Is anyone working with DNA probes to the relevant collagen gene who might be able to offer these nice people a more definitive diagnosis? Also, is it possible to determine actual risks of these disorders when we find out if either parent also has the inversion? MOM lists a similar case where the woman had the inversion too, yet the child still had oi. Thanks. I'm a genetic counselor and textbook author. 76715.3517@compuserve.com Ricki Lewis <76715.3517@COMPUSERVE.COM> ************************************************************** We are looking for a proper way to transport muscle biopsies from a distance about 12 hours. Some says liquid nitrogen is very suitable to keep the biopsies okay, but this is not possible in our case, if anyone knows another way, please just write down. Best wishes Sevtap Savas Bogazici University Department of Molecular Biology and Genetics P.K.2 Bebek/ Istanbul Turkiye Tel: 90 212 263 15 00/1877 Fax: 90 212 265 97 78 E-mail: savasse@boun.edu.tr ************************************************************** We have recently narrowed the candidate interval for the NPS gene but need more families to reduce it to a manageable size. If you know of any NPS families suitable for linkage studies, please let me know. In addition, we would like to have access to persons who appear to be the result of new mutations (and their parents, if possible). We have IRB approval for obtaining blood samples for genetic studies. Please reply directly to: imcintos@welchlink.welch.jhu.edu Thanks for your help, Iain McIntosh -- Iain McIntosh, PhD. Center for Medical Genetics Johns Hopkins University School of Medicine 600 North Wolfe Street / Blalock 1012G Baltimore, MD 21287-4922 phone 410-955 7948 fax 410-614 2522 imcintos@WELCHLINK.WELCH.JHU.EDU ************************************************************** My name is Henry Chromow. I am a student working in the Sudol lab at The Mt. Sinai School of Medicine. Our lab has identified a signaling module in the human dystrophin protein- it is called WW-Domain. It is composed of 38 amino acids forming a three-dimensional structure that interacts specifically with the poly-proline region of the beta-dystroglycan receptor. One of my aims is to identify deletions and point-mutations that map the WW-Domain dystrophin. More precisely, any mutation that is localized in the gene, corresponding to the amino acid sequence of dystrophin in the position of 3000-3300 amino acid (according to Kunkel et al.) is of interest to us. We would appreciate your help if you could direct us to appropriate sources or if you could help us locate unpublished information on point mutations in the dystrophin. Sincere thanks, Henry Chromow E-Mail address: Eekius@aol.com Fax Number: (212) 426-1483 ************************************************************** I know of someone who had an amniocentesis, and the karyotyping came up with a translocation of chromasome 12 to chromasome 4. Does anyone know what this indicates, and should they consider termination? I would appreciate an answer as soon as possible. PLEASE RELPY DIRECTLY TO THE HUMAN MOLECULAR GENETICS NETWORK Apparent patient location: US ************************************************************** We have ascertained a large family with classical autosomal dominant hereditary angioneurotic oedema. The affected members have been well characterised at a clinical and immunological level. Is anyone interested in receiving a DNA sample from an affected family member for mutation studies in the C1NH gene? Yours sincerely, Graeme Suthers. ________________________________________________________________________ Dr Graeme Suthers MBBS, PhD, FRACP 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) **************************************************************