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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG:
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Tue, 23 May 1995 08:08:37 MET-DST


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:


And I've passed your address on to him.


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.

Michael Eccles, PhD
Research Fellow, Cancer Genetics Laboratory

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