HUM-MOLGEN archive: DIAG: 2 messages

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 2 submessage(s): 1) X-linked hypophosphataemic rickets X-linked (Xp) Spondyloepiphyseal dyspalsia tarda (SEDL) 2) Retinoblastoma, FAP, HNPCC: molecular diagnostics Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** Dear Sir/Madam, We have recently cloned the gene for X-linked hypophosphataemic rickets (HYP; HYP consortium, Nature genetics PEX gene). I am now actively devising experiments at elucidating gene function. I write to ask whether there are clinicians/investigators who have patients with oncogenic hypophosphataemic osteomalacia (OHO), or related phosphaturic factor releasing tumours (Linear sebaceous naevus syndrome, fibrous dysplasia of bone, neurofibromatosis, oat cell carcinoma). These tumours are very rare, and may well provide the key to unravelling the putative substrate activated on by PEX. They tend to be haemangiopericytomas of mesenchymal origin, and produce factor(s) resulting in a renal phosphate leak, and inappropriate depression of 1,25 Vit levels, osteomalacia and consequent hypophospahtaemia. I would be most interested in: 1.Tumour tissue. 2. blood before and after removal of tumour. In addition any blood/DNA samples from patients with familial X-linked rickets would also be appreciated. X-linked (Xp) Spondyloepiphyseal dyspalsia tarda (SEDL): I am also collecting families with SEDL, with the ultimate aim of mapping and cloning this gene (just distal to HYP). Blood and /or DNA from such families would be most welcome. Thank you for your help. Peter S.N. Rowe, Senior Lecturer/ Senior MRC Research Fellow, University College London, Department of Medicine, Middlesex Hospital, Mortimer Street, London. W1N 8AA United Kingdom Tel: 0171-636-8333 xt 3257 or 3261 Fax: 0171-636-3151 e-mail: reha444@ucl.ac.uk ************************************************************** We are students of Gdansk University Faculty of Biotechnology in Poland. One of the fields in which our department is engaged is molecular diagnostics. We are interested in particular in molecular diagnostics of hereditary neoplastic diseases, this still being in its fairly early stages in Gdansk, and such information might constitute an auxiliary tool for doctors in screening tests. Is there anyone who could supply us with information on the subject of mutations in the RB gene responsible for the forming of retinoblastomy. We are also interested in mutations in the APC (adenomatous polyposis coli) gene responsible for the forming of FAP (familial adenomatous polyposis), as well as mutations in genes hMSH2, hPMS1, hPMS2, hMLH1 responsible for HNPCC (hereditary non-polyposis colorectal cancer). We would also greatly appreciate information on the subject of the diagnostic methods in the cases of these diseases. Our respects, Magdalena Skwarek Arkadiusz Piotrowski ________________________ Magdalena Skwarek Arkadiusz Piotrowski Faculty of Biotechnology University of Gdansk ul. Kladki 24 80-822 Gdansk POLAND phone/fax: +48 58 312807 e-mail: arpiotr@farmacja.amg.gda.pl