HUM-MOLGEN archive: DIAG: 6 messages

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 6 professional requests: 1) Allgrove syndrome 2) Oral-facial-digital type I syndrome (OFDI) 3) Marfan Syndrome 4) Situs Inversus 5) C-reactive Protein 6) Parry-Romberg 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) Allgrove syndrome I would like to know if there are researchers interested in getting DNA from a family here at the Nemours Children's Clinic. My colleague in endocrinology has asked if there might be a group studying the genes involved with Allgrove syndrome. (The Triple A syndrome -- ACTH defect (hereditary adrenocortical unresponsiveness to ACTH), Achalasia, Alacrima, and other neurological abnormalities, including autonomic, sensory, and upper- and lower-motor neuropathy, deafness, and mental retardation.) The family so far consists of two half-sisters with the same healthy mother. Both have classical ACTH unresponsiveness, one has had severe achalasia requiring intensive GI management. I am aware of progress on chromosome #12 for this condition. If this family is interested what are specimen requirements, etc. Thank You Anthony Perszyk MD Division of Medical Genetics Nemours Children's Clinic 807 Nira Street Jacksonville, Florida USA 32207 TEL# 1-904-390-3726 FAX# 1-904-390-3422 aperszyk@nemours.org ********** 2) Oral-facial-digital type I syndrome (OFDI) Dear colleagues, Our lab is involved in the identification of disease genes from the Xp22 region. We are very interested in obtaining DNA and or cell lines from sporadic and familial cases of Oral-facial-digital type I syndrome (OFDI), which has been recently mapped to the Xp22 region. The familial cases will be used for linkage stuides in order to reduce the critical region. In the meantime, we are performing mutation analysis with a few candidate genes that we have already isolated from the OFDI critical region. I would be pleased to collaborate with anyone who may have suitable patient for this study. Sincerely, Brunella Franco, M.D. Research Unit Coordinator T.I.G.E.M. (Telethon Institute of Genetics and Medicine) Via Olgettina 58 20132 MILANO TEL 011-39-02-21560202 FAX 011-39-02-21560220 Email franco@tigem.it ********** 3) Marfan Syndrome I am searching for labs performig mutation analysis of Marfan Syndrome Eugènia Monrós Secció Genètica Hospital Sant Joan de Déu Av. Sant Joan de Déu nº2 08950 Esplugues, Barcelona Spain Tel: +34 93 2532100 ext 2275 Fax: +34 93 2803626 emonros@HSJDBCN.ORG ********** 4) Situs Inversus Dear Colleague, Can any body provide suggestions about the molecular genetics of Situs Inversus Totalis as well as only Situs Inversus. With warm regards, Yours sincerely, Dr G R Chandak Scientist & Medical Geneticist Centre for DNA Fingerprinting and Diagnostics, CCMB Campus, Hyderabad 500 007. INDIA Tel 00-91-40-7172241, 7016017 Fax 00-91-40-7171195, 7150008 chandakgrc@HOTMAIL.COM ********** 5) C-reactive Protein I am interested to receive any information -- anecdotal or otherwise-- about mutations/polymorphisms in human C-reactive Protein and any associated clinical manifestations. Dr. Eluem R. Blyden geneticdesigns@MINDSPRING.COM ********** 6) Parry-Romberg Syndrome Is there anyone working on Parry-Romberg Syndrome? We are interested in knowing recent advances on the basis of the pathology and/or data available for prognosis. Any comments or experience will be welcome. Eugènia Monrós Secció Genètica Hospital Sant Joan de Déu Av. Sant Joan de Déu nº2 08950 Esplugues, Barcelona Spain Tel: +34 93 2532100 ext 2275 Fax: +34 93 2803626 emonros@HSJDBCN.ORG ************************************************************************ 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"