HUM-MOLGEN archive: DIAG (11 Messages)

The following 11 messages have been submitted to the DIAG section of HUM-MOLGEN. Replies should be made directly to the requesting person, not to HUM-MOLGEN. If you have recently submitted a DIAG message that has not been included in this or a previous posting, please contact HUM-MOLGEN. Robert G. Resta Carlo Gambacorti-Passerini DIAG Editor DIAG Editor HUM-MOLGEN HUM-MOLGEN **************************************************************** Summary of Messages: 1) TUBEROUS SCLEROSIS COLLABORATION 2) HEPATIC DISEASE, OSTEOPOROSIS, MULTIPLE FRACTURES 3) SPASTIC PARAPARESIS/?ADRENOMYELONEURPATHY 4) SPONDILOTHORACIC DYSOSTOSIS/JARCHO-LEVIN 5) NEED ADVICE REGARDING BETAINE THERAPY 6) DIAGNOSIS OF FAMILIAL RECTAL PAIN 7) SEEKING FAMILIES WITH NEUROLOGICAL DISEASE 8) FGFR2 SYNDROME? 9) CHERUBISM 10) CLINICAL STUDY: ATAXIA-TELANGIECTASIA 11) MULTIPLE BASAL CELL CARCINOMAS ***************************************************************** 1) TUBEROUS SCLEROSIS COLLABORATION Reply-To: "Dr R.M.Rawi" <rowani@tm.net.my> We are interested in genetic studies of tuberous sclerosis in our population (Asia: malaysia) but do not enough fund for research despite having large number of patient. Collaboration is welcome. Dr R.M.Rawi ----------------------------------------------------------------- 2) HEPATIC DISEASE, OSTEOPOROSIS, MULTIPLE FRACTURES Reply to: Bernd-C.Schwahn@UNI-KOELN.DE Dear collegues, We are treating a family with three male members (brothers in school age), who share the same clinical picture: mild hepatopathy (elevated transaminases, histology of very mild unspecific "hepatitis"), marked osteoporosis with multiple fractures (all biochemical parameters of bone and collagen metabolism are normal). All the diagnostic work-up has been done without any evidence for a metabolic, infectious or toxic etiology. We think about a genetic background but we are not able to recognize any suitable known disease. Therefore, we should like to ask this forum, whether anyone has an idea of a possible disease or a suggestion for further diagnostic procedures. Thank you for your help! Bernd Schwahn, MD University Children's Hospital Moorenstra D-40225 Duesseldorf Fax ++49-211-8118757 e-mail Bernd-C.Schwahn@uni-koeln.de ----------------------------------------------------------------- 3) SPASTIC PARAPARESIS/?ADRENOMYELONEURPATHY Reply-To: dr Andras Lengyel <bandino@hotmail.com> Dear Editors: My name is Andras Lengyel, I'm a hungarian neurologist. I have a young male patient, who suffers in slowly progressive spastic paraparesis and incontinentia urinae.Other neurological signs absents. He had these tests: Cranial CT: negative Cranial MRI: negative Spinal cord MRI: negative Liquor: negative /oligoclonal gamma band to/ SPECT: minimal biparietal changes Electroneurography: sensorial degeneration in inferior limbs I think probably he has adrenomyeloneuropathy. But in Hungary the necessary biochemical tests are not available. Could You please help me? Your faithfully dr Andras Lengyel e-mail:bandino@hotmail.com My institution: Diosgyori Neurologia 3520 Miskolc Korhaz u. 1 Hungary ----------------------------------------------------------------- 4) SPONDILOTHORACIC DYSOSTOSIS/JARCHO-LEVIN Reply-To: "Jose Carlos P. Ferreira" <zec@inx.net> I saw a patient with the diagnosis of Jarcho-Levin S., and with some other visceral anomalies not commonly associated with this syndrome. There has been some hypothesis of linking this syndrome with Pax9 or Pax1 genes. I would like to know if there is anyone doing any research on this hypothesis that would like to study a DNA sample of this patient. Thank you very much Jose Carlos Ferreira, MD Genetics Fellow Albert Einstein College of Medicine Montefiore Medical Center ----------------------------------------------------------------- 5) NEED ADVICE REGARDING BETAINE THERAPY From: Richard Erbe, MD (Folate@AOL.COM) Dear Colleague A 20-year-old patient of ours with 5,10-methylenetetrahydrofolate reductase deficiency is having a very difficult time trying to eat the 6 grams of betaine each day needing to keep her plasma L-homocysteine concentration low. She has tried mixing it with a variety of solids and liquids, but now gags immediately when she tries to swallow it. We would be grateful for any suggestions. Richard W. Erbe, M.D., Chief, Division of Genetics, Children's Hospital of Buffalo, and Professor of Pediatrics and Medicine, School of Medicine and Biomedical Sciences, State University of New York at Buffalo ----------------------------------------------------------------- 6) DIAGNOSIS OF FAMILIAL RECTAL PAIN From: Caroline R Fertleman <c.fertleman@UCL.AC.UK> We have recently started doing linkage study on familial rectal pain in our department. Hayden & Grossman (1959) first described a syndrome which included episodic severe pain of the submandibular, ocular and rectal areas with flushing of the surrounding skin. Autosomal dominant inheritance was apparent, and a number of families have subsequently been reported. The clinical features suggest that the cellular phenotype involves both autonomic and nociceptor neurones but the molecular basis of the disorder is entirely unknown. Intestinal 'neuronal dysplasia' has been reported on rectal biopsy in one family. If you have any patients in your care who might be willing to participate in our study please contact us. Thank you Caroline Fertleman Department of Paediatrics UCL Medical School The Rayne Institute 5 University Street London WC1E 6JJ Tel 0171 209 6663 Fax 0171 209 6103 ----------------------------------------------------------------- 7) SEEKING FAMILIES WITH NEUROLOGICAL DISEASE From: Andrew Escayg <aescayg@UMICH.EDU> Dear Colleagues, Our lab has developed reagents for mutation detection in two ion channel genes which are good candidates for inherited neurological disorders such as ataxia, absence epilepsy and dystonia, based on studies of mutant mice. We are interested in obtaining samples from suitable human families for the purpose of mutation detection in these genes. I would be grateful if individuals who have access to such families, or know where they may be obtained could contact me. We will also be willing to provide closely linked microsatellite markers to facilitate linkage analysis in suitable families. Yours sincerely Andrew Escayg, PhD Department of Human Genetics University of Michigan 4708 Medical Science II Ann Arbor Michigan, 48109-0618 tel: (734) 763-1053 fax: (734) 763-9691 email: aescayg@umich.edu ----------------------------------------------------------------- 8) FGFR2 SYNDROME? From: Angela Scheuerle, M.D. <ascheuer@PED1.MED.UTH.TMC.EDU> Hi, I've just seen a 10 day old male with general features of an FGFR2 syndrome turrincephaly with proptosis and flattened midface, peaked palate, lowset ears, high webbing of hand digits 2/3 and complete cutaneous syndactyly of toes 2/3. He also has bilateral inguinal hernias. The features that do not fit this are a wide, notched nasal tip, hypertelorism, and bilaterally cleft upper eyelids. He does not look like oculo-auriculo-vertebral/Goldenhar or Treacher Collins. (Globes are normal) He could have fronto-nasal dysplasia, but that wouldn't account for the syndactyly or turrincephaly. Easily his most striking features are the upper eyelids. POSSUM has no reference. Easily available texts (Synd of Head and Neck, Smith's BDE have not given me any clues. While my search is on-going, I'd appreciate any suggestions. Angela E. Scheuerle, M.D. Assistant Professor Medical Genetics Department of Pediatrics University of Texas - Houston ascheuer@ped1.med.uth.tmc.edu ----------------------------------------------------------------- 9) CHERUBISM From: Hartmut Peters <H.Peters@GENETIK.CHARITE.HU-BERLIN.DE> Dear Colleagues, We have recently diagnosed a three generation family, with cherubism in every generation. We would like to know is anyone interested on molecular investigation of this disease? Please reply to Dr.Hartmut Peters Institute of Medical Genetics Charit=E9, 10098 Berlin, Germany Fax.0049-30-28021286 h.peters@genetik.charite.hu-berlin.de ----------------------------------------------------------------- 10) CLINICAL STUDY: ATAXIA-TELANGIECTASIA Reply-To: Pam Bower <pbower@inforamp.net> STUDY: Effect of myo-Inositol on Cerebellar and Immune Function in Patients with Ataxia-Telangiectasia STUDY LOCATION: The Children's Hospital of Philadelphia (CHOP) 34th Street & Civic Center Boulevard, Philadelphia, Pennsylvania USA 19104-4399 PRINCIPLE INVESTIGATOR: Gerard Berry, M.D. (Metabolism/Biochemical Genetics) CO-INVESTIGATORS: Peter Bingham, M.D. (Neurology) Kathleen Sullivan, M.D., Ph.D. (Immunology) FOCUS OF STUDY: Investigation of pharmacological doses of a nutrient, identified as deficient in patients with A-T, with critical roles in cell signalling and cellular metabolism. Pre and post-assessment of immune, neurological and activities of daily living functioning. STUDY DESIGN: Double blind placebo-controlled randomized-crossover study. FUNDING SOURCE: NIH Clinical Research Center Funds WHAT IS REQUIRED: Four(4) trips to Philadelphia: 1) 5 days at CHOP for "pre" measurements & establishment of therapeutic dose of the intervention per your child's weight and metabolism. 1) Return home with liquid intervention. 3) Take either placebo or nutrient for 1 month (both pleasant tasting). 4) 2 days at CHOP 1 month later for "post" measurements. 5) At least 1 week in-between, then repeat steps 1-4. COST: No cost for study and assessments. Minimal out-of-pocket for meals, recreation. Lodging at Ronald McDonald House. Assistance with airfares provided by The A-T Project (Austin) with support from The A-T Medical Research Foundation (Los Angeles). BENEFITS OF STUDY: To participants & families: - Complete immune & neurological work-ups including brain MRI. - Determination of your child's A-T genotype - Upon study completion, details of your child's neurological and immune response to the intervention. To all affected by A-T: - Contributing to treatment options for A-T. - Correlation of phenotype(symptoms & seriousness) with genotype. - Determination of levels of critical cell signalling phospholipids in specific cell membranes(never before measured). CONTACT:Gerard Berry, M.D. 215-590-3372 Michelle Bergman, R.N. 215-590-1399 - Clinical Research Center Coordinator (Ms. Bergman can provide referrals to other families who have participated). ----------------------------------------------------------------- 11) MULTIPLE BASAL CELL CARCINOMAS From: gambacorti@istitutotumori.mi.it I have seen a 28 y old female patient presenting with 25-30 basal cell carcinomas on sun-exposed parts of the trunk. The rest of clinical examination as well as XR of the skull and jaw are unremarkable, especially for signs of Gorlin syndrome. PTCH mutations analysis is in progress. Did anybody see a similar patient with multiple BCC, young age, but no other signs of Gorlin S ? I would appreciate comments and suggestions. Thanks. Carlo Gambacorti-Passerini MD Senior Investigator Istituto Nazionale Tumori - OSD Via Venezian 1 20133 Milano - Italy Tel +39.2.239-0818 Fax +39.2.239-0764 E-mail GAMBACORTI@ISTITUTOTUMORI.MI.IT