HUM-MOLGEN archive: DIAG: 6 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 6 professional requests: 1) Tay-Sachs 2) Pseudo-Treacher Collins syndrome 3) Autosomal Dominant Coloboma/Microphthalmia 4) Autosomal-Dominant Idiopathic Fanconi's anemia. 5) Riley-Day Syndrome 6) Vitiligo 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) Tay-Sachs We are investigating the extent of linkage-disequilibrium around the TS locus in the Ashkenazi Jewish population and need DNA from affected individuals homozygous for the 1278+TATC mutation. Anyone willing to provide anonymous DNA or cells from such cases please contact me at: Robert D. Burk, M.D. Ullmann Rm. 515 Albert Einstein College of Medicine 1300 Morris Park Ave. Bronx, NY 10461 Direct Tel: 718 430-3720 FAX: 718 430-8975 Lab 718 430-3744 burk@AECOM.YU.EDU ********** 2) Pseudo-Treacher Collins syndrome We have recently seen a family in which the combination of apparent branchial arch anomalies and minor digital defects is inherited as an autosomal dominant trait. They had been diagnosed as having Treacher Collins syndrome, but that clearly is not the correct diagnosis. They are very motivated to have someone try to identify the gene. There are at least 6 affected individuals in three generations. Please contact: Helga Toriello, Ph.D. Genetics Services 21 Michigan St. Suite 465 Grand Rapids, MI 49503 phone: 616-391-2701 fax: 616-391-3114 Email: helga.toriello@spectrum-health.org ********** 3) Autosomal Dominant Coloboma/Microphthalmia We are about to start linkage analysis on a large family with coloboma and microphthalmia segregating as an autosomal dominant disease. We would be very interested in including other well-characterised families in the panel. Please contact David FitzPatrick MD/Veronica van Heyningen PhD Molecular Medicine Centre/MRC Human Genetics Unit Western General Hospital Edinburgh EH4 2XU UK Tel(Fax) 0131 651 1012(3) email: david.fitzpatrick@ed.ac.uk Veronica.VanHeyningen@hgu.mrc.ac.uk ********** 4) Autosomal-Dominant Idiopathic Fanconi's anemia. I would like to know if there are researchers interested in studying this family of 4 generations 10 affected for molecular gene determination. Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. Tolaymat A, Sakarcan A, Neiberger R University of Florida Health Science Center, Pediatrics Department, Jacksonville 32209. J Am Soc Nephrol 1992 Feb;2(8):1310-7 PMID: 1627757, UI: 92329697 They have not had complementation studies. Please, see the article for details. Thank you. Sincerely, Tony Perszyk Anthony Perszyk MD Division of Medical Genetics Nemours Children's Clinic 807 Nira Street Jacksonville, Florida 32207-8426 USA TEL# 1-904-390-3726 FAX# 1-904-390-3422 aperszyk@nemours.org ********** 5) Riley-Day Syndrome We have a family with four year old ex-child due to Riley-Day Syndrome. There is no DNA of this child. Now, the mother has her second pregnancy of 12 weeks gestation. The family wants have a prenatal diagnosis for this pregnancy. In our department, prenatal diognosis for such rare diseases is not carried out. If we can find any center which performs prenatal diagnosis of Riley-Day Syndrome, we can send either amniotic fluid cells or culture or isolated DNA sample. Please contact us urgently from the below address. Address: Akdeniz University Faculty of Medicine Dept. of Medical Biology and Genetics Antalya,Turkey Fax:+90.242.227.44.95 e-mail: esra@hipokrat.med.akdeniz.edu.tr ********** 6) Vitiligo We are about to start immunomodulation on vitiligo patients and we would be very interested in obtain information about tyrosinase and tyrosinase-related proteins I and II and genetic studies on vitiligo patients relatives. Please contact Luis Fernando de Mello Campos MD Departamento de Pesquisa Centro de Medicina Molecular do Rio de Janeiro Rua Visconde de Pirajá 351 sala 1004. Ipanema. Rio de Janeiro. CEP 22410-003 Telephone-FAX 55(21)521-7578 e-mail lfmcampos@openlink.com.br ********** ************************************************************************ 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"