HUM-MOLGEN archive: DIAG:

Note from the DIAGNOSTIC/CLINICAL RESEARCH editor: This DIAG message contains 2 submessages: 1) Reply to Anna Newlin - Coloboma 2) Reply to Anna Newlin - Coloboma ************************************************************************ HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************************ Re the request: >I'm attempting to find out if there are any labs that are looking at familial >coloboma. We recently evaluated a child with bilateral iris, choroid and retina ....stuff deleted............... > This family would be interested in participating in any molecular research >looking at candidate genes for coloboma. I would be delighted to hear from >any researchers that would be interested in studying this family. > > Anna Newlin, MS > Genetic Counselor > University of Illinois at Chicago > Eye and Ear Infirmary > annanewl@uic.edu Mike Eccles, at the University of Otago (New Zealand) has found Pax-2 mutations in familial optic nerve coloboma. Reference - Sanyanusin P, Schimmenti LA, Mcnoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, and Eccles MR (1995). Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9: 358-364. He would, I am sure, be delighted to hear from you at: meccles@gandalf.otago.ac.nz And I've passed your address on to him. Cheers, Martin NNNN NN Martin A Kennedy (E-mail = mkennedy@chmeds.ac.nz) ZZZZZZZ NN NN NN Cytogenetic and Molecular Oncology Unit ZZZ NN NN NN Christchurch School of Medicine ZZZ NN NNNN Christchurch, New Zealand ZZZZZZZ Phone (64-3)364-0880 Fax (64-3)364-0750 ********************************************************************** I would be very interested in collaborating with you to analyze this family for potential PAX2 gene mutations. We have recently identified PAX2 mutations in 2 different families with optic nerve coloboma associated with renal anomalies. One individual in one of the families presented with only optic nerve coloboma, and so we are pursuing the possibility that PAX2 may cause autosomal dominant ocular colobomas. I am currently setting up a study involving several centres in New Zealand, Australia and USA to analyze patients with ocular coloboma, and would be very interested to hear from you. Sincerely, Michael Eccles, PhD Research Fellow, Cancer Genetics Laboratory meccles@GANDALF.OTAGO.AC.NZ