CF Genetic Analysis Consortium NEWSLETTER #68- May 23, 1996
1. The total number of mutations reported is 622, DNA sequence polymorphisms in the coding region is 68, and, non-coding region, 55 (see the entire lists in the attached tables). Summary of the newly reported CF mutations and DNA sequence polymorphisms:
Name of Nucleotide Exon Consequence Institute Names of
mutation change Contributors
CFTRdel14a deletion of 14a aberrant splicing Johns Hopkins Egan M, Macek M
>=1.2 kb University, Jr, Cutting GR
including Baltimore, USA (Jan 11)
exon 14a
Note: The above mutation was found in a homozygous patient from a Persian family. The
patient has pancreatic insufficiency, elevated sweat cholride concentrations, and pulmonary
disease. Contact: Dr. Garry R. Cutting
4006-4A->G A->G at 4006-4 intron splicing mutation? Laboratoire de Chomel JC,
20 Genetique Baudis M, Kitzis
Cellulaire et A (Jan 19)
Moleculaire, CHU
de Poitiers,
France
Note: The above mutation was found by DGGE with chemical clamps and identified by DNA
sequencing. Contact: Dr. Jean Claude Chomel
Q1281X C->T at 3973 20 Gln->Stop at 1281 IRO, Spain Casals T, Ramos
MD, Gimenez J,
Nunes V,
Estivill X (Jan
25)
406-112T/A T->A at intron polymorphism as above as above
406-112 3
Note: The above mutation, Q1281X, was detected by DGGE and direct sequencing. The CF
patient is a 10-year old girl who carries [[Delta]]F508 on the maternal allele. She
presents severe lung disease and pancreatic insufficiency. The polymorphism in intron 3
was detected by SSCA and direct sequencing. Contact: Dr. Teresa Casals
1199delG deletion of G 7 frameshift University of Liechti-Gallati
at 1199 Berne, S (Jan 25)
Switzerland
R560S (A->T) A->T at 1812 12 Arg->Ser at 560 as above as above
and splice
mutation?
A613T G->A at 1969 13 Ala->Thr at 613 as above as above
T1299I C->T at 4028 21 Thr->Ile at 1299 as above as above
Note: The above 4 mutations were detected by SSCP and characterized by direct sequencing
of Swiss CF patients. Contact: Dr. Sabina Liechti-Gallati
1716+2T->C T->C at 1716+2 intron splice mutation Institut de Claustres M,
10 Biologie Guittard C,
Montpellier, Carles S (Feb 2)
France
Note: The above mutation was found by DGGE in a CF family from Southern France. Contact:
Pr. Mireille Claustres
547insTA insertion of 4 frameshift First Department Tzetis M,
TA after 547 of Pediatrics, Antoniadi Th,
Athens Kanavakis E (Feb
University, 21)
Greece
L137P T->C at 542 4 polymorphism? as above as above
711+34A->G A->G at 711+34 intron splice mutation? as above as above
5
Note: The mutation 547insTA was detected in a PS patient with chronic cough, S-K: 85, CXR:
20. Age at diagnosis: 1 month; chloride sweat test: 93 mEq/L; the mutation on the other
chromosome is unknown. Father is Russian (Kazakstan) and mother is Greek, but the
inheritance of 547insTA has not been determined. All the 3 sequence alterations above were
each found once in 500 chromosomes screened. Contact: Dr. E. Kanavakis.
A309G C->G at 1058 7 Ala->Gly at 309 Laboratoire de Bienvenu T,
Biochimie Bousquet S,
Génétique, Herbulot C,
Groupe Beldjord C,
Hospitalier Kaplan JC (Feb
Cochin, France 23)
Note: The above mutation was detected by DGGE using chemical clamps and identified by
direct sequencing. It is not found in 100 other non-[[Delta]]F508 CF chromosomes and 100
non-CF chromosomes tested. The patient is from Reunion Island. Contact: Thierry Bienvenu.
3499+3A->G A->G at 3499+3 intron splice mutation? Royal Manchester Haworth A,
17b Children's Malone G,
Hospital, England Schwarz M (Feb
29)
Note: The above mutation was detected by SSCP/heteroduplex analysis and identified by
direct sequencing. The mutation was seen only once in over 20 non-[[Delta]]F508 chromosome
screened. Contact: Dr. Martin Schwarz.
S589N G->A at 1898 12 Ser->Asn at 589, University of Scheffer H, Wu
splicing mutation? Groningen, The Y, Hofstra R,
Netherlands Looman M, Buys C
(Mar 6)
Note: The above mutation was detected by DGGE and characterized by direct sequencing.
S586N probably affects RNA splicing. It was found in a male with CF carrying [[Delta]]F508
on the other allele. The change was not observed in 100 other CFTR alleles from 50
unrelated individuals without family history of CF. Contact: Hans Scheffer
2751+2T->A T->A at 2751+2 intron splice mutation First Department Antoniadi Th,
14a of Pediatrics, Tzetis M,
Athens Kanavakis E (Mar
University, 7)
Greece
Note: The above mutation was found in a 14 month old patient with sweat chloride of 85.7
mEq/L, PI since birth, chronic cough, S-K: 90, and CRX: 22. It was found once among 500
chromosomes screened. The other mutant allele in this patient was [[Delta]]F508. Contact:
Dr. E. Kanavakis
I601F A->T at 1933 13 Ile->Phe at 601 Royal Manchester Schwarz M,
Children's Haworth A,
Hospital, England Malone G (Mar 8)
Note: The above 2 mutations were detected by SSCP/heteroduplex analysis and identified by
direct DNA sequencing. I601F was seen only once in over 100 non-[[Delta]]F508 CF
chromosomes screened. The patient , who was referred by West Midlands Regional Genetics
Service, is heterozygous for the G542X mutation. Contact: Dr. Martin Schwarz.
1802delC deletion of C 11 frameshift Centre de Ferec C,
at 1802 Transfusion Verlingue C,
Sanguine et de Mercier B, Quere
Biogénétique, I (Mar 12)
Brest, France
1717-3T->G T->G at 1717-3 intron splice mutation? as above as above
10
Note: The above mutations were found in 2 CF patients of French origin. Contact: Claude
Féréc
H146R A->G at 569 4 His->Arg at 146 Laboratoire de Bienvenu T,
(CBAVD) Biochimie Bousquet S,
Génétique, Herbulot C,
Groupe Beldjord C,
Hospitalier Kaplan JC (Mar
Cochin, France 15)
Nore: The above mutation was detected by DGGE analysis using chemical clamps and
identified by direct DNA sequencing. The mutation was not found on 100 other
non-[[Delta]]F508 CF and 100 non-CF chromosomes. H146R creates an MaeIII site. The
patient is an infertile man with congenital bilateral absence of vas deferens and unknown
mutation on the other chromosome. Contact: Dr. Thierry Bienvenu.
V1153E T->A at 3590 18 Val->Glu at 1153 Medizinische Dork T,
(CBAVD) Hochschule Sturhmann M,
Hannover, Germany Horst J,
Dworniczak B
(Mar 15)
L1388Q T->A at 4295 23 Leu->Gln at 1388 as above as above
(CBAVD)
Note: The above mutations were each found once in a sample of 50 German CBAVD patients.
One of them was heterozygous for V1153E and for 3272-26A->G, and the other was L1388Q and
[[Delta]]F508. Contact: Dr. Manfred Sturhmann or Dr. Bernd Dworniczak
I177T T->C at 662 5 Ile->Thr at 177 Laboratoire de Bienvenu T,
Biochimie Bousquet S,
Génétique, Herbulot C,
Groupe Beldjord C,
Hospitalier Kaplan JC (Mar
Cochin, France 21)
Note: The above mutation was detected by DGGE with chemical clamps and direct sequencing.
It was not found in 100 other non-[[Delta]]F508 CF chromosomes and 100 non-CF chromosomes
tested. This mutation can be easily detected by a new RsaI restriction site. The patient
was diagnosed by meconium ileus. The other CFTR mutation in this patient is unknown.
Contact: Thierry Bienvenu
991del5 deletion 6b frameshift Universita Degli Leoni GB,
AACTT from Studi di Rosatelli MC,
991 or CTTAA Cagliari, Italy Cao A (Mar 22)
from 993
1601delTC deletion of 10 frameshift as above as above
TC from 1601
or CT from
1602
Note: The 991del5 mutation was detected by DGGE/heteroduplex analysis and direct
sequencing. The mutation destroys an AFlII site and was found in 2 Sardinian CF
chromosomes. The 1601delTC mutation was detected by nondenaturing gel electrophoresis
analysis and direct sequencing in an Italian CF patient with PI, carrying [[Delta]]F508 on
the other chromosome. Contact: Giovan Battista Leoni
R1128X A->T at 3514 18 Arg->Stop at 1128 Hôpital Henri Ghanem N,
Mondor, Creteil, Girodon E, Flori
France J, Goossens M
(Mar 22)
T1057A A->G at 3301 17b Thr->Ala at 1057 as above as above
3939C/T C or T at 3939 20 polymorphism (no as above as above
amino acid
change- Ile1269)
Note: R1128X was found during a pregnancy in a fetus suspected of having CF according to
anomalies observed by scan. The nucleotide substitution creates a FokI site and abolishes
a EarI site. The other mutation was [[Delta]]F508. T1057A was also found in a fetus.
Contact: Prof. Michel Goossens
2789+32T/C T or C at intron polymorphism Medizinische Mekus F, Tümmler
2789+32 14b Hochschule B (Mar 27)
Hannover, Germany
CFTRdel2,3 deletion of 2 and frameshift as above Mekus F, Dörk T,
exons 2 and 3 3 Tümmler B (Mar
27)
CFTRdel2 deletion of 2 frameshift as above Mekus F, Tümmler
exon 2 B (Mar 27)
Note: The 2789+32T/C variation was detected by SSCP and identified by direct screening in
one mild and one severe CF patient. The CFTRdel2,3 and CFTRdel2 mutations were found in
two homozygous Turkish CF patients. Contact: Dr. Frauke Mekus
G1047D G->A at 3272 17b Gly->Asp at 1047 Center for Human Teng H, Messiaen
and splice Genetics, L, Cuppens H,
mutation? (CBAVD?) Leuven, & Ctr Cassiman J-J
Med Gen, Ghent, (Apr 2)
Belgium
Note: The above mutation was detected by direct sequencing in a CBAVD patient. It is not
found in 58 normal chromosomes in fathers of CF patients nor in 150 random control CFTR
alleles by dot blot analysis. Contact: Harry Cuppens
Q1313K C->A at 4069 21 Gln->Lys at 1313 Royal Manchester Malone G,
(polymorphism?) Children's Haworth A,
Hospital, England Schwarz M (Apr 9)
Nore: The above mutation was detected by DGGE analysis and identified by direct DNA
sequencing. The mutation was found on the same chromosome carrying [[Delta]]F508. The
substitution was found once, in a family referred by the West Midland Regional Genetics
Service. Contact: Dr. Martin Schwarz.
P499A C->G at 1627 10 Pro->Ala at 499 Servizio di Arduino C,
(CBAVD) Genetica Medica Brusco A,
Torino, Italy Ferrone M,
Carbonara A (Apr
22)
Note: The above mutation was detected by SSCP analysis and identified by direct
sequencing. It was found on the paternal chromosome in a CBAVD patient, with his maternal
chromosome carrying W1282X. The mutation removes a BstNI site. Contact: Prof. Angelo
Carbonara
E292K G->A at 1006 7 Glu->Lys at 292 Laboratoire de Bienvenu T,
Biochimie Bousquet S,
Génétique, Herbulot C,
Groupe Beldjord C,
Hospitalier Kaplan JC (Apr
Cochin, France 23)
Note: The above mutation was detected by DGGE with chemical clamps and identified by
direct sequencing. It was not found in 100 other non-[[Delta]]F508 CF chromosomes and 100
non-CF chromosomes tested. The French patient presents PI and moderate pulmonary disease.
Contact: Prof. Jean Claude Kaplan
H620Q T->G at 1992 13 His->Gln at 620 Medizinische Dork T,
Hochschule Sturhmann M (Apr
Hannover, Germany 29)
L973F TC->AT at 16 Leu->Phe at 973 as above as above
3048 and 3049 (CBAVD)
D979A A->C at 3068 16 Asp->Ala at 979 as above as above
(CBAVD?)
Note: The H620Q mutation was identified in a German patient with mild CF and who is
heterozygous for this mutation and [[Delta]]F508. L973F was found in a German CBAVD
patient heterozygous for this mutation and the 2789+5G->A mutation. D979A was found in a
Vietnamese CBAVD patient carrying a yet unknown mutation on the other allele. Contact:
Dr. Manfred Sturhmann
4096-28G->A G->A at intron splicing mutation? Institut de Claustres M,
4096-28 21 Biologie Guittard C,
Montpellier Desgeorges M,
Carles S (Apr 30)
2691T/C T or C at 2691 14a polymorphism (no as above as above
amino aicd
change- Ile853)
Note: Both of the sequence alterations above were found by DGGE and identified by direct
sequencing in Libanese families. The first one creates a new EcoRV site. Contact: Prof.
Mireille Claustres.
296+9A->T A->T at 296+9 intron splice mutation? The Hospital for Zielenski J,
2 Sick Children, Markiewicz D,
Toronto & Jordan Tsui L-C,
University of Rawashdeh M,
Sci & Technology Khateeb M (May 1)
T388M C->T at 1295 8 Thr->Met at 388 as above as above
(polymorphism?)
G622D G->A at 1997 13 Gly->Asp at 622 The Hospital for Zielenski J,
(oligospermia) Sick Children, Markiewicz D,
Toronto, Canada Tsui L-C (May 1)
Note: The 296+9A->T and T388M mutations/polymorphisms were detected by hetroduplex
analysis in 2 different Jordanian CF patients. The first one abolishes an NlaIII site.
G622D was found in a patient with oligospermia. This putative mutation creates a new MboII
site. Contact: Dr. Julian Zielenski
D979V A->T at 3068 16 Asp->Val at 979 Laboratoire de Feldmann D,
Biochimie, Cougoureux,
Hopital Magnier C,
Trousseau, Larose F, Aymard
Paris, France P (May 3)
Note: The above mutation was detected by DGGE and direct sequencing, and was observed in a
French family with 2 CF patients carrying [[Delta]]F508 on their other CF chromosomes.
Contact: Dr. Delphine Feldmann.
A72D C->A at 347 3 Ala->Asp at 72 Universite de Le Gall JY,
Rennes 1, France Jezequel P,
Blayau M (May 10)
Note: The above mutation was detected by DGGE and direct sequencing, and confirmed by the
presence of a new MaeII site. It was found with [[Delta]]F508 on the other CF chromosome
of a patient with severe CF. Contact: Pr. J.Y. Le Gall.
R851L G->T at 2684 14a Arg->Leu at 851 IRO, Spain Casals T, Ramos
MD, Gimenez J,
Nunes V,
Estivill X (May
14)
Note: The above mutation was detected by DGGE and direct sequencing. IT was detected in a
CF carrier father who had 2 children, both died of CF. The maternal mutation is unknown.
Contact: Teresa Casals
2. T. Dork (Jan 13) noted that the 2 exon 12 mutations, Y577F and 1874insT, that they previously reported were in fact located in the same allele. The result was confirmed by family analysis and the father was found to carry [[Delta]]F508. The name has been changed to 1874insT (together with Y577F).
3. T. Bienvenue et al (Feb 23) noted that the T->C substitution at 1307 should be named V392A (not G329A).
4. M Claustres (Mar 5) noted that 132C->G was reported in error due to misinterpretation of the sequencing gel; the true mutation was M1V (which also destroys a NlaIII restriction site).
5. You can access the CF Mutation Database via the World Wide Web; the address is <http://genet.sickkids.on.ca/cftr.html>. Again, please drop me note by e-mail if you have seen the www page and give me any suggestions regarding future improvements. My new address is <lctsui@genet.sickkids.on.ca> although the old one should still work.
Regards,
Contacts:
Dr. Angeliki Balassopoulou; Address: Center if Thalassemias, Unit of Prenatal Diagnosis, 16 Sevastoupoleos Street, Ampelokipi 11526, Athens, Greece; Telephone: +30 1-77.89.476 ; FAX: +30 1-77.57.442
Dr. John A. Barranger; Address: E-1651 Biomed Science Tower, University of Pittsburgh, Pa 15261; Telephone: +1 412 624-4623; FAX: +1 412 624-1032; e-mail: jbarrang@helix.hgen.pitt.edu
Dr. Thierry Bienvenu; Address: Laboratoire de Biochemie Génétique, Groupe Hospitalier Cochin, 27, rue du fg Saint-Jacques, 75679 Paris Cedex 14, France. Telephone: +33 (1) 42 34 12 12; FAX: +33 (1) 44 41 15 22
Dr. Cristina Bombieri; Address: Istituto di Biologia e Genetica, Università di Verona, Strada Le Grazie 8, 37134 Verona, Italy; Telephone: +39 45 8098183; FAX: +39 45 8098180; e-mail: cristy@borgoroma.univr.it
Dr. Dominique Bozon; Address: Biochimie Bât D, Hôpital Debrousse, 29 rue Soeur Bouvier, 69322 Lyon, Cedex 05, France; Telephone: +33 72.38.57.21; FAX: +33 72. 38.58.84
Prof. Angelo Carbonara; Address: Servizio di Genetica Medica, Az. Osp. S. Giovanni Battisca, via Santena 19, 10126 Torino, Italy; Telephone: +39 11 662 6771; FAX: +39 11 67 40 40
Dr. Jean Claude Chomel, Laboratoire de Genetique Cellulaire et Moleculaire, BP 577, 86021 Poitiers Cedex, France. Telephone: +33 49.44.39.03; FAX +33 49.44.39.12; e-mail <gcelmol@hermes.univ-poitiers.fr>
Pr. Mireille Claustres; Address: Laboratoire de Biochimie Génétique, Institut de Biologie, Boulevard Henri IV, 34060 Monpellier Cedex, France; Telephone: +33 67 60 11 81; FAX: +33 67 60 95 06; e-mail:
Dr. Harry Cuppens; Address: Center for Human Genetics, University of Leuven, Campus Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium Telephone: +32 16-34.58.60; FAX: +32 16-34.59.97; E-Mail: Harry=Cuppens%COM%CME@cc3.kuleuven.ac.be
Dr. Garry R. Cutting; Address: Center for Medical Genetics, 600 N. Wolfe Street, CMSC 1004, Baltimore, MD 21287-3914; Telephone: +1 (410) 614-0211; FAX: +1 (410) 955-0484; e-mail: mmacek@welchlink.welch.jhu.edu
Dr. Ângela Duarte; Address: Departmento de Genética Humana, Instituto Nacional de Saúde, Av. Padre Cruz, 1699 Lisboe Codex, Portugal; Telephone: 351.1.7585129; FAX: 351.1.7590441
Dr. Bern Dworniczak, Institut für Humangenetik, Westfälische Wilhelms- Universität Münster, Vesaliusweg 12-14, D- 48149 Münster, Germany
Dr. Ted Edkins, Clinical Chemistry, Princess Margaret Hospital for Children, Australia; Telephone: +61 9 340 8595; FAX: +61 9 340 8117; e-mail: margchld@angis.su.oz.au
Dr. Delphine Feldmann; Address: Laboratoire de Biochimie, Hôpital D'Enfants Armand-Trousseau, 26 avenue du Dr Arnold-Netter, 75571 Paris Cédex 12, France; Telephone: +33 44.73.68.67; FAX: +33 44.73.66.87; e-mail: dpt-mb@infobiogen.fr
Dr. Claude Férec; Address: Centre de Biogénétique, Centre de Transfusion Sanguine et de Biogénétique, 46 Rue Félix Le Dantec - B.P. 454 - 29275 BREST Cédex, France; Telephone: +33 98.44.50.64; FAX: +33 98.43.05.55; e-mail: Claude.Ferec@univ-brest.fr
Dr. Paolo Fortina/ Dr. Saul Surrey; Address: The Children Hospital of Philadelphia; 310-C Abramson Pediatric Research Center, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4318, U.S.A.; Telephone: +1 215 590-3318; FAX: +1 215 590-3660; e-mail: fortina@mail.med.upenn.edu
Dr. Kenneth Friedman/ Dr. Lawrence M. Silverman; Address: University of North Carolina Hospitals, 1071 East Wing, Chapel Hill, NC 27514. Telephone: +1 919-966-0713; FAX: +1 919-966-0717; e-mail: bluemold@med.unc.edu
Pr. Damjan Glavac; Address: National Institute of Chemistry, SI-61115 Ljubljana, Hajdrihova 19, Slovenia, P.O.B. 30; Telephone: (+386 61) 123-20-61; FAX: (+386 61) 125-92-44/125-70-69
Prof. Michel Goossens; Address: INSERM U.91, CHU Henri Mondor, 51 Av. du Maréchal de Lattre de Tassigny, 94010 CRETEIL, France; Telephone: +33 (1) 49 81 28 60; FAX: +33 (1) 49 81 28 42
Laurent Gouya; Address: Laboratoire de Biochemie Génétique, Hôpitaux Robert Debré, 48, Bd Sérurier, 75019 Paris; Telephone: + 33 (1) 40.03.20.00; FAX: (1) 40.03.20.20
Dr. Marija Guc-Scekic; Address: Laboratory of MEdical Genetics, Mother and Child Health Institute, Radoja Dakica St. No 8, 11070 Novi Beograd, Serbia, Yugoslavia; FAX: 381 11 609 869; e-mail: scekic@msn.com
Dr. Ann Harris, Institute of Molecular Medicine, Oxford; e-mail: aharris@molbiol.ox.ac.uk
Dr. David Hughes; Address: Department of Medical Genetics, Floor A, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB Telephone: (0232) 329241; FAX: (0232) 236911
P Jézéquel/Y.E. le Gall; Address: Départment de Biochimie et Biologie Molecularie, Universite de Rennes I, 2 Avenue du Professeur Léon Bernard, 35043 Rennes Cédex, France; Telephone: 33.99.33.68.20; FAX: 33.99.33.68.98; E-Mail: legall@univ-rennes1.fr
Dr. Marios Kambouris; Address: Laboratory for Moelcular Genetics & DNA Diagnostics, King Faisal Specialist Hospital & Reserach Center, P.O. Box 3354, MBC #03, Riyadh 11211, Kindom of Saudi Arabia; Telephone: +966 1-446-7272 Page 9404; FAX: +966 1- 442-7858; e-mail: mkambour@biomed.med.yale.edu
Dr. med. Emmanuel Kanavakis; Address: Anthens University, First Dept. of Pediatrics, Unit of Molecular Medicine, St. Sophia Children's Hospital, Athens 11527, Greece; Telephone/FAX: (031) 7795762; E-Mail: ekanavak@atlas.uoa.gr
Dr. Jean Claude Kaplan; Address: Laboratoire de Biochemie Génétique, Groupe Hospitalier Cochin, 27 rue de fg Saint-Jacques, 75679 Paris Cedex 14; Telephone: +33 (1) 42.34.12.12; FAX: +33 (1) 44.41.15.22
Dr. Genoveva Keyeux; Address: Pontificia Universidad Javeriana, Instituto de Genetica Humana, Carrera 7a No. 40-62 Edificio 32, Santafé de Bogotá, Columbia; Telephone: +571 287-94-16 or 288-54-86; FAX: +571 288-23-25; e-mail: gkeyeux@javercol.javeriana.edu.co
Prof.dr. Radovan Komel ; Address: Institute of Biochemistry, Medical Faculty, Vrazov trg2, 61000 Ljubljana, Slovenia; Telephone: (+386 61) 312 357; FAX: (+386 61) 132 0016
Prof. Inge Liebaers; Address: Center for Medical Genetics, Free University Hospital Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium; Telephone: +32 (02) 477.60.71; FAX: +32 (02) 477.58.00
Dr. Sabina Liechti-Gallati; Address: Laboratory of Molecular Genetics, Department of Clinical Research, University of Berne, Murtenstrasse 35, CH - 3010 Berne, Switzerland; FAX: +31 381 47 13; e-mail: liechti@ikp.unibe.ch
Giovan Battista Leoni; Address: Istituto di Clinica e Biologia del l'Eta Evolutiva, Univesita Degli Studi di Cagliari, via Jenner S/N, I- 09121 Cagliari, Italy; Telephone +39 70 503341; FAX: +39 70 503696
W. Lissens, Center for Medical Genetics, Free University Hospital, Laarbeeklaan 101, 1090 Brussels, Belgium. Telephone: +32 2-477 6071; FAX: +32 2-477 5800; e-mail: lgenlsw@az.vub.ac.be
Dr. C. Phillip Morris/ Bill Carey; Address: Women's and Children's Hospital, 72 King William Road, North Adelaide, S.A. 5061, Australia; Telephone: +61 8 204-7330; FAX: +61 8 204-7100; e-mail: pmorris@medicine.adelaide.edu.au
Dr. Virginia Nunes / Teresa Casals; Address: Institut de Recerca Oncologica, Hospital Duran i Reynols, Autovia de Castelldefels km. 2.7, Hospitalet, 08907 Barcelona, Catalunya, Spain; Telephone: (34-3) 335 71 52; FAX: (34-3) 263 22 51; e-Mail: vnunes@gm.iro.es
Dr. Meral Özgüç; Address: Department of Pediatrics, Hacettepe University, Ankara, Turkey; FAX: +90 312 3 11 07 77; e-mail: mozguc@bilkent.edu.tr
Dr. med. André Reis; Adress: Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin; Telephone: +49 (030) 450 66113; FAX (030) 450 66904; e-mail: reis@ukrv.de
Dr. Martin Schwarz; Address: Regional Molecular Genetics Laboratory, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester M27 4HA; Telephone: 0161-794 4696; FAX: 0617272328
Dr. med. Manfred Stuhrmann-Spangenberg; Address: Institut für Humangenetik OE 6300, Zentrum Kinderheilkunde und Humangenetik, Medizinische Hoschule Hannover, D- 30625 Hannover, Germany; Telephone: +49 (511) 532-3719; FAX: +49 (511) 532-5865
Dr. G.R. Taylor, Yorkshire REgional DNA Laboratory, Clinical Genetics Unit, Ashley Wing, St. Jame's University Hospital, Leeds LS9 7TF; Telephone +44 (0113) 283 7083; FAX: (0113) 246 7090; e-mail: gtaylor@hgmp.mrc.ac.uk
Dr. Lap-Chee Tsui; Address: Department of Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8 CANADA; Telephone: +1 (416) 813 6015 FAX: +1 (416) 813 4931; e-mail: lctsui@genet.sickkids.on.ca
Andrew Wallace; Address: Regional Molecular Genetics Laboratory, Department of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH; Telephone: 061-276-6129/6122; FAX: 061-274-3159
Dr. Julian Zielenski; Address: Department of Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8 CANADA; Telephone: +1 (416) 813 6365 ; FAX: +1 (416) 813 4931; e-mail: jziel@genet.sickkids.on.ca