HUM-MOLGEN archive: DIAG: 9 prof. requests

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 9 professional requests: 1) Familial glomus tumors 2) Familial diabetes insipidus 3) Family with porphyria 4) 46,XX,del(7)(pter->q22.3::q31.1->qter) 5) Bartter syndrome 6) Allgrove Syndrome 7) Marfan syndrome 8) CADASIL 9) Familial psoriasis 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) Familial glomus tumors We have recently mapped the chromosomal region co-segregating with inherited "glomus tumors" ("glomangiomas" or venous malformations with "glomus cells"; OMIM#138000 GLOMUS TUMORS, MULTIPLE) Am J Hum Genet, Boon et al., in press. We would like to welcome new clinical/laboratory collaborators for the purpose of identifying additional families for the positional cloning of the mutated gene. We are also looking for additional families for various other vascular anomalies, especially for inherited venous malformations, for which we have previously identified the causative gene, TIE-2 (Vikkula et al., Cell 1996; 87:1181-1190). If you have seen/ know of any such families, please do not hesitate to contact us. Written informed consent is needed for each participant and all our studies have been approved by the ethical review board of the Faculty of Medicine of our university. Looking forward to fruitful collaborations. Sincerely, Miikka Vikkula, M.D., Ph.D. Associate Member Laboratory of Human Molecular Genetics Christian de Duve Institute & Université catholique de Louvain Avenue Hippocrate 75+4, bp. 75.39 B-1200 BRUSSELS BELGIUM phone/secretary + 32-2-764 7539 phone/office: + 32-2-764 6530 phone/lab: + 32-2-764 6531 fax: + 32-2-764 7548 or 7598 e-mail: vikkula@bchm.ucl.ac.be web: http://www.icp.ucl.ac.be/vikkula ********** 2) Familial diabetes insipidus We have a family with 4 affected individuals over three generations with diabetes insipidus. There are 2 in the middle generation - sisters. Our patient is a 2 year old girl, born to one of the sisters. Then their father also was affected (but we do not have his records). Is any one interested in studying this family's DNA? Sincerely, Tony Perszyk Anthony Perszyk MD Division of Medical Genetics Nemours Children's Clinic Jacksonville, Florida USA 32207-8426 TEL# 1-904-390-3726 FAX# 1-904-390-3422 aperszyk@nemours.org <mailto:Aperszyk@nemours.org> ********** 3) Family with porphyria I have a family in my practice with a suspected diagnosis of variegate porphyria. The proband has a history of unexplained abdominal pain and mild photosensitivity. During a mild attake urinary PBG was mildly elevated. Her Uro-I-Synthetase levels were normal. Her fecal stool porphyrins were normal (collected once, when she was feeling well). Hereditary coproporhyria is also in our differential. This woman's mother has a history of cutaneous photosensitivity and intolerance of hormone replacement. There are three cousins (two are sibs of each other, and the third is a different uncle's son) who have been diagnosed with inflammatory bowel disease. Is there anyone who is doing any DNA studies on Variegate Porphyria? Any suggestions re: a work-up for this woman? Lea Velsher, MD Lakeridge Health Oshawa 1 Hospital Court Oshawa, Ontario, Canada L1G 2B9 e-mail: lvelsher@idirect.com fax: (905) 721-4757 ********** 4) 46,XX,del(7)(pter->q22.3::q31.1->qter) I've had a request for information of similar cases from a mother of a 3 year old girl with karyotype : 46,XX,del(7)(pter->q22.3::q31.1->qter) de novo. This mother seeks addresses of families or support groups of rare chromosome abnormalities, in the hope that families with children with similar deletion breakpoints might be able to communicate. Many thanks from: Kerry Fagan , Chief Cytogeneticist HAPS, Newcastle Mater Hospital Waratah NSW 2398 AUSTRALIA tel: +61 249 211246 fax: +61 249 211248 email: kfagan@hunterlink.net.au ********** 5) Bartter syndrome Dear Colleagues - Our patient is a 9 year old male with a previous history of severe prematurity at 28 weeks. Birth weight less than 900 grams. Polyhydramnios and cocaine positive urine. Major alcohol usage and obvious features of fetal alcohol syndrome. Mild cerebral palsy secondary to IVH. Mild mental deficits. Hypokalemia was seen in the NICU initially and is persisting to this day. Renal function has dropped to ~30% of normal. Mild proteinuria is also present. Severe growth delay has been treated with growth hormone replacement for 3 years. Ht and wt are both below the 5%ile. He is about the size and weight of a 6 year old. He is on potassium replacement and Rocaltrol. He has not had renal calculi. Urine shows calcium to be low. Labs : Serum calcium runs high normal on treatment. Highest is 10.9mg/dl Both cholesterol and triglycerides run in mildly elevated ranges - 194 and 273, respectively. Urine Amino acids show increased amounts of threonine, citrulline, cystine, and alanine. Platelets run in the 400 to 500 hundreds. Mild normo-cytic anemia is noted. Alk phos is always around 400 (twice normal) Currently the BUN is 27 Is there anyone interested in testing him for true hypokalemic alkalosis with hypercalciuria (Bartter syndrome)? As well as other known genetic defects of potassium regulation. ?Gitelman Na-K-2Cl cotransporter gene and/or ROMK potassium channel? Etc? He has been reviewed by three renal experts. There is no consensus about his diagnosis. The adoptive family wishes to know if he is or is not a candidate for transplant (if things get to that point). Perhaps gene tests might sort out some of this. Suggestions? Thank you. Tony P. Anthony Perszyk MD Division of Medical Genetics Nemours Children's Clinic Jacksonville, Florida USA 32207 TEL# 1-904-390-3726 FAX# 1-904-390-3422 aperszyk@nemours.org ********** 6) Allgrove Syndrome I,m a psychologist. Recentlly I saw a 6 years old boy with Allgrove Syndrome. This is the first time I have hear of this condition and I don't have any information about sintoms, prognosis, treatment, etc. I would appreciate any information you can send me. Mayra R. Seda Toro, MA ClÌnica de EvaluaciÛn y Servicios de Apoyo Multidisciplinario Tous Soto # 205 Urb. Baldrich Hato Rey, PR 00936 alvin6998@prtc.net ********** 7) Marfan syndrome We are doing a research on National Center of Medical Genetic of Cuba about Marfan Syndrome, based on clinical criteria. We have a patient with clinical phenotype in cardiovascular, skeletal, and ocular system, but he also had hight levels of calcium in urine, osteoporosis, renal litiasis and we suspected a renal aciduria. We need to get in touch with some Doctors who had similar experience. Sincerely your. MD.Phd.Aracely Lantigua. National Center of Medical Genetic. Aracely@genmed.giron.sld.cu ********** 8) CADASIL - Is anyone doing direct sequencing for the notch3 gene? Any special requirements for the sample? We have examined 3 different families with 6 individuals presenting with the typical CADASIL phenotype and positive family history. We have also done the autopsy in one individual. - Is there an antibody available against the granular osmiophilic material found in the vascular smooth muscle cells? We would appreciate any input regarding these issues. Thank you. Alfredo Lopez-Yunez, MD Engin Yilmaz, MD, PhD Department of Neurology Indiana University 545 Barnhill Dr #125 Indianapolis, IN 46202 alopez1@iupui.edu ********** 9) Familial psoriasis We have recently identified a large kindred where psoriasis seems to be dominantly inherited. We are looking to collaborate on this family with a group actively involved in psoriasis genetics. We think the family may allow for the identification/confirmation of psoriasis linked genetics loci. As the genetics of psoriasis is not one of our research foci, we would be happy to share this material with a group interested in it. Thank you. Maurice van Steensel, MD Dept. of Dermatology University Hospital Nijmegen PO Box 9101 6500 HB The Netherlands mvanstee@baserv.uci.kun.nl ************************************************************************ 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"