HUM-MOLGEN archive: DIAG: 9 messages (2 PT REQ.)

**************************************************** HUM-MOLGEN DIAGnostics/Clinical Research **************************************************** This DIAG message contains 7 professional and 2 patient requests: 1) Genetic susceptibility to infectious diseases 2) How to name this mutation ? 3) Juvenile onset leg pain 4) Patient with 46, XY, t(11,19) (p11.2;p13.3) translocation 5) Protein C deficiency 6) Difficult prenatal US 7) Geleophysic dysplasia, Acromicric dysplasia, Call for patients 8) Limb-girdle muscular dystrophy (pt request) 9) Defect of chromosome 16 (pt request) ***************************************************** Carlo Gambacorti, MD, Editor, Min Ae Lee, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************** ***************************************************** 1) Genetic susceptibility to infectious diseases Dear Editors, I am Prof.Bamezai <bamezai@jnuniv.ernet.in> Incharge of the Lab. of Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi, India. I have been working in the area of Human Genetics for the past >20years. I started my research career working in the area of Prenatal Diagnosis in early and mid seventees. Since then we have worked in different areas of clinical gene tics. For the past 8 years we are working in the areas of genetic susceptibility to infectious diseases like leprosy and tuberculosis and also cancer, taking Bloom syndrome cell lines as an in vitro model. Our two publications in 1997 in Leprosy have appeared in Human Genetics vol.100:pp.30-34 and 43-50. In case more information is required, I will be glad to provide. I am looking forward to more exchanges and interaction and collaboration, regards. ***************************************************** 2) How to name this mutation ? Dear colleagues, I am a medical doctor and a researcher at the Division of Molecular Pathology, Institute for Medical Research, Kuala Lumpur and the Department of Paediatrics, Kuala Lumpur Hospital, Malaysia. I would be grateful if you could advice me on the following: 1. How to name this mutation: Wild type AG ; Mutant C The 3rd nucleotide (nucleotide no, say 105) of codon 35 is A and the first nucleotide of codon 36 is G (i.e. nucleotide 106 is G). There has been a frameshift mutation as well as a base substitution. 2. Are there pedigree drawing programs available free (on-line) which can be used to draw pedigrees for submission to journals? Thanks. Alan Khoo Khoo <alankhoo@IMR.GOV.MY> ***************************************************** 3) Juvenile onset leg pain I'm a human geneticist and may have identified a large family with an autosomal dominant inherited form of juvenile onset leg pain (transient intense deep bilateral leg pain, juvenile onset, symptoms diminish with age). Can anyone tell me which category of syndromes this disorder might belong to and if they have knowledge/access to other similarly affected families. Yours gratefully Corinne L Lendon (PhD), Research Instructor of Genetics, ADRC Post Doctoral Fellow, Dept Psychiatry, PO Box 8134, Washington University School of Medicine, 4940 Children's Place, St Louis, MO 63110, voice mail 314 362 8668, lab: tel 314 362 8670, fax 314 362 8649, email Lendon@icarus.wustl.edu ***************************************************** 4) Patient with 46, XY, t(11,19) (p11.2;p13.3) translocation Our patient has 46, XY, t(11,19) (p11.2;p13.3) translocation--globally developmentally delayed, digitalized thumbs, brachycephaly, small downturned mouth, mild midface hypoplasia, bilateral extra skin fold medially under lower eyelid. He was small for gest. age, supraventricular tachycardia, hyperbilirubinemia, hypoglycemia--all resolved. Relatively normal retinal exam; however, he shows some diffuse pigmentary mottling which might represent an underlying retinal dystrophy. Questions: Is the translocation balanced and just a red herring in a boy affected with a Mendelian disorder? Does anyone have similar patient phenotypically or similar translocation? Are the findings related to the translocation which has been reported-no cytogenetically detectable deletion? Does anyone have FISH probes for regions involved? Anyone interested in doing molecular investigation for deletion? Joanne Sutherland, MSc Genetic Counsellor, Eye Genetics Team Solutions By Sequence Co-Ordinator Retinoblastoma Mutation Analysis Eye Clinic Dept. Ophthalmology-Main Floor Elm Wing Hospital for Sick Children 555 University Avenue Toronto, Ontario M5G 1X8 Phone: 416-813-7822 FAX: 416-813-6261 email: jsuthe@sickkids.on.ca ***************************************************** 5) Protein C deficiency I am looking for information on protein C deficiency in the blood system. The patient in question is a 14-year old male who complained of migraine-like headaches. Hospital tests showed a low protein C count (currently 39). Father and mother have been tested and shown not to be carriers, i.e. the condition is thought to result from a mutant gene. The patient has been told that while there is a risk of thrombosis there is no treatment available and he will need to return for further tests and possible treatment when he is 18. Can anyone provide further information on this condition or suggest avenues of treatment which should be explored." Many thanks, Prof. A. Maxwell Dept Biochemistry Univ. Leicester Leicester LE1 7RH TEL: 0116 252 3464 FAX: 0116 252 3369 email: ony@le.ac.uk ***************************************************** 6) Difficult prenatal US Dear colleagues, We need help in counseling a family in which a fetus was found to have renal findings which we find difficult to interpret. The mother is a 30 year old G1 and had an US study at 22.3 weeks of gestation. Relative oligohydramnios (AFI 9, normal >12), and large hyperechogenic kidneys were visualized (renal circumference 80 mm, expected: 54 mm; renal length 35 mm, expected: 25 mm). No renal, liver, pancreas or brain cysts were found and no other malformations were seen. Triple screen was normal. The parents have a common ancestry, but are not related. The parents have normal kidneys (US) and there is no family history of kidney disease. Screening for Tay Sachs, CF and FRAX was normal. Chromosomes were not studied. Please reply to Moshe Frydman MD, Genetics institute, Sheba Medical Center, Tel Hashomer, Israel Fax 972-3-5302914 E-mail mfrydman@post.tau.ac.il ***************************************************** 7) Geleophysic dysplasia, Acromicric dysplasia Call for Patients We are initiating a study of geleophysic dysplasia to describe the natural history of the disorder, detail any variability in the radiographic or physical appearance, and identify the biochemical and molecular defect(s). Some cases of acromicric dysplasia may be related to geleophysic. To collaborate in this study please contact: Bill Wilcox, M.D., Ph.D. Medical Genetics Cedars-Sinai Medical Center 8700 Beverly Blvd., SSB-3 Los Angeles, CA 90048 (310) 855-6673 wwilcox@mailgate.csmc.edu ***************************************************** 8) Limb-girdle muscular dystrophy (pt request) Apparent location: USA Please reply directly to HumMolGen I have an incurable, untreatable neuromuscular disease, probably autosomal dominant limb-girdle muscular dystrophy. How does the body recognize that a gene is dominant? Is there something in the sequence of the coding for protein synthesis or is it more likely in the genetic material between genes? What is the current state of research in discovering how to inactivate a defective dominant gene? I recently read about three researchers trying to change the way a cell "reads" a defective gene using antisense oligonucleotides. (I need a definition of that term.) Is such research still in its infancy? Last December when Vical received a patent for their method of injecting naked DNA into muscle cells, it sounded like exactly what I need. Of course, my exact gene defect has not yet been identified, much less located, sequenced, and reproduced. Any information would be greatly appreciated. ***************************************************** 9) Defect of chromosome 16 (pt request) Apparent location: Brazil Please reply directly to HumMolGen A mother is looking for info regarding chromosomal defects of chromosome 16. She was told that her son with no apparent dysmorphic features but marked developmental delay has a defective cromosome 16. ***************************************************** 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: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- ----------------- "copyright HUM-MOLGEN"