Gene Symbol: CRB1

Disease: Leber congenital amaurosis

E. Vallespin, D. Cantalapiedra, M. Garcia-Hoyos, R. Riveiro, C. Villaverde, M.J. Trujillo-Tiebas, C. Ayuso

Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: evallespin@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0510

166

GATGGaattgatggTTACT

Comments:

Gene Symbol: BMPR1A

Disease: Hereditary mixed polyposis syndrome

Xia Cao, Pei Yean Cheah

Department of Colorectal Surgery, Singapore General Hospital, Outram Road, Singapore 169608, Singapore, e-mail: gcscao@sgh.com.sg, Tel.: +65-63213636, Fax: +65-62262009

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0511

42

GACCAG∧AAAaagtcagaaaaTGGAGTA

Comments: Cause frame-shift and stop at codon 69 (TGA)

Gene Symbol: VHL

Disease: von Hippel–Lindau syndrome

L.A. Mavrogiannis, E.G. Sheridan, L.D. Burnell, G.R. Taylor

DNA Laboratory, St James’s Hospital, Leeds LS9 7TF, UK, e-mail: lampros.mavrogiannis@leedsth.nhs.uk, Tel.: +44-113-2066058, Fax: +44-113-2467090

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0512

57

GCC∧GGgCGGCCG

Comments: Apparently isolated case with multiple cerebellar haemangioblastomas. Ref. Seq.: L15409. Formal notation: c.171delG

Gene Symbol: CYP1B1

Disease: Glaucoma, Primary congenital

J.F.F. Brinkmann, C.P.E. Ottenheim, R.H.C. Zegers, P.T.V.M. de Jong, A.A.B. Bergen

Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic diseases of the eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands, e-mail: J.Brinkmann@ioi.knaw.nl, Tel.: +31-20-5664598, Fax: +31-20-5666121

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0513

152

AGCATG∧atGCGCAAC

Comments: Mutation: c.454–455delAT, GenBank accession U56438

Gene Symbol: SERPINC1

Disease: Antithrombin deficiency

L. Schleithoff, H.P. Seelig

Institute for Immunology and Molecular Genetics, Kriegsstrasse 99, 76133 Karlsruhe, Germany, e-mail: L.Schleithoff@seelig.de, Tel.: +49-72-185000176, Fax: +49-72-18500099

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0514

417

AAGTT∧CCTCTgAACACTATT

Gene Symbol: CYP1B1

Disease: Primary congenital glaucoma

J. Nirmaladevi, T. Karthiyayini, G. Kumaramanickavel

SNONGC Department of Genetics and Molecular Biology, Sankara Nethralaya, 18 College Road, Chennai, Tamil Nadu 600 006, India, e-mail: nirmal_a2k@yahoo.com, Tel.: +91-44-28271616, Fax: +91-44-28254180

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0515

132/E2

CGGCCGC∧AGCAtGGCT

Comments: Truncated dioxin-inducible cytochrome p450 protein

Gene Symbol: APC

Disease: Familial adenomatous polyposis coli

Maria Shahmoradgoli, O. Mueller, N. Kutzner, B. Noorinayer, M.R. Zali

Deutsches Krebsforschungszentrum, Abteilung Molekulare Genetik, B060 Im Neuenheimer Feld 280, 69120 Heidelberg, Germany, e-mail: m.shahmoradgoli@dkfz.de, Tel.: +49-6221-424619, Fax: +49-6221-424639

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0518

1060

ATGAA∧ATaaaacAAAGTGAGCAAAG

Comments: Patient with classical familial adenomatous polyposis coli

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0519

Glu452GlyfsX456

A∧GAAG

Gene Symbol: SCN8A

Disease: Ataxia

M.H. Meisler, M.M. Trudeau, J.C. Dalton, J.W. Day, L.P.W. Ranum

Department of Human Genetics, University of Michigan, 4909 Buhl Box, 0618, Ann Arbor, Michigan 48109-0618, USA, e-mail: meislerm@umich.edu, Tel.: +1-734- 7635546, Fax: +1-734-7639691

Small Deletions (<21 bp)

Accession Number

Codon Number/location

Deletion

Hd0520

1719

CGCCCC∧CctGAC

Comments: P1719FSX1724

Gene Symbol: FECH

Disease: Porphyria, erythropoietic

E. Di Pierro, V. Brancaleoni, V. Moriondo, V. Besana, M.D. Cappellini

Department of Internal Medicine, University of Milan, Centro Anemie Congenite-Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Italy, e-mail: elena.dipierro@unimi.it, Tel.: +39-02-55033363, Fax: +39-02-50320296

Gross Deletions

Accession Number

Description

Hg0501

Sequence analysis on the RNA showed loss of exons 3 and 4. DNA analysis revealed the presence of a 5,576 bp deletion defined by two short direct repeats of about 40 bp and two Alu sequences. The first breakpoint was located in intron 2 at nucleotide 12490, the second was located in intron 4 at nucleotide 18067.

Comments: Genebank accession number of FECH sequence is AJ250235

Gene Symbol: CRB1

Disease: Leber congenital amaurosis

E. Vallespin, D. Cantalapiedra, M. Garcia-Hoyos, R. Riveiro, C. Villaverde, M.J. Trujillo-Tiebas, C. Ayuso

Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: evallespin@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0534

1330

GAG-TAG

Glu-Ter

Gene Symbol: FOXE1

Disease: Nonsyndromic cleft palate

D. Teti, Mario Venza, Maria Visalli, Emanuele Bellacchio, Claudia Torino, Teresa Arrigo, Bruno Dallapiccola

Department of Experimental Pathology and Microbiology, Section of Experimental Pathology, Azienda Policlinico Universitario, Torre Biologica, 5° piano, Via Consolare Valeria 1, 98125 Messina, Italy, e-mail: dteti@unime.it, Tel.: +39-90-2213340, Fax: +39-90-2213341

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0535

49

CTG-CCG

Leu-Pro

Comments: Protein modeling suggested that the mutation L49P causes the distortion of the terziary structure of FOXE1 protein, which could impair the binding for the consensus sequences and influence the molecular recognition of nucleic acids by the transcription factor.

Gene Symbol: ABCA4

Disease: Stargardt disease 1

R.Riveiro-Alvarez, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso

Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0536

1315

cCAG-TAG

Gln-Ter

Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.

Gene Symbol: ABCA4

Disease: Stargardt disease 1

R.Riveiro-Alvarez, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso

Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0537

1961

cGGA-AGA

Gly-Arg

Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.

Gene Symbol: ABCA4

Disease: Stargardt disease 1

R.Riveiro-Alvarez, J. Aguirre, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso

Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0538

2187

gCAG-TAG

Gln-Ter

Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.

Gene Symbol: TNFSF5

Disease: Hyper-IgM syndrome

L.S. Schleithoff, H.P. Seelig

Institute for Immunology and Molecular Genetics, Kriegsstrasse 99, 76133 Karlsruhe, Germany, e-mail: L.Schleithoff@seelig.de, Tel.: +49- 721-85000176, Fax: +49-721-85000199

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0539

167

GGA-GTA

Gly-Val

Gene Symbol: CRB1

Disease: Leber congenital amaurosis

E. Vallespin, D. Cantalapiedra, M. Garcia-Hoyos, R. Riveiro, A. Queipo, M.J. Trujillo-Tiebas, C. Ayuso

Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: evallespin@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0540

1001

ATT-AAT

Ile-Asn

Gene Symbol: CYP1B1

Disease: glaucoma, primary congenital

J.F.F. Brinkmann, C.P.E. Ottenheim, R.H.C. Zegers, P.T.V.M. de Jong, A.A.B. Bergen

Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic diseases of the eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands. e-mail: J.Brinkmann@ioi.knaw.nl, Tel.: +31-20-5664598, Fax: +31-20-5666121

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0541

159

cCAG-cTAG

Gln-Stop

Comments: Mutation: c.475C > T, p.Q159X (stop codon), GenBank accession U56438

Gene Symbol: PRSS1

Disease: Pancreatitis, hereditary

L. Schleithoff, H.P. Seelig

Institute for Immunology and Molecular Genetics, Kriegsstrasse 99, 76133 Karlsruhe, Germany, e-mail: L.Schleithoff@seelig.de, Tel.: +49-721-85000176, Fax: +49-721-8500099

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0542

98

cCAA-AAA

Gln-Lys

Gene Symbol: SLC3A1

Disease: Cystinuria

T. Eggermann, E. Brauers

Institute of Human Genetics, University Hospital RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: teggermann@ukaachen.de, Tel.: +49-241-8088008, Fax: +49-241-8082394

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0543

179

GAT-TAT

Asp-Tyr

Gene Symbol: CYP1B1

Disease: Primary congenital glaucoma

J. Nirmaladevi, T. Karthiyayini, G. Kumaramanickavel

SNONGC Department of Genetics and Molecular Biology, Sankara Nethralaya, 18 College Road, Chennai, Tamil Nadu 600 006, India, e-mail: nirmal_a2k@yahoo.com, Tel.: +91-44-28271616, Fax: +91-44-28254180

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0544

292

ATG-AAA

Met-Lys

Comments: Mutated dioxin-inducible cytochrome p450 protein

Gene Symbol: SLC7A9

Disease: Cystinuria

Eva Brauers, Thomas Eggermann

Institute of Human Genetics, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: evabrauers@gmx.de, Tel.: +49-241-8088008, Fax: +49-241-8082394

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0545

73

GGG-AGG

Gly-Arg

Gene Symbol: SLC3A1

Disease: Cystinuria

Eva Brauers, Thomas Eggermann

Institute of Human Genetics, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: evabrauers@gmx.de, Tel.: +49-241-8088008, Fax: +49-241-8082394

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0546

562

GAG-CAG

Glu-Gln

Comments:

Gene Symbol: SLC3A1

Disease: Cystinuria

Eva Brauers, Thomas Eggermann

Institute of Human Genetics, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: evabrauers@gmx.de, Tel.: +49-241-8088008, Fax: +49-241-8082394

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0547

567

AGG-AGC

Arg-Ser

Gene Symbol: RPE65

Disease: Leber’s congenital amaurosis

Mamatha Gandra, Srilekha Sundaramurthy, Govindasamy Kumaramanickavel

ONGC Department of Genetics & Molecular Biology, Vision research foundation, Sankara nethralaya, 18 College road, Nungambakkam, Chennai 600006, India, e-mail: gmamatha5@gmail.com, Tel.: +91-044-28271616, Fax: +91-044-28254180

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0548

471

CCC-CTC

PRO-LEU

Comments: Pro471Leu mutation has been detected in an Indian LCA patient.

Gene Symbol: MPZ

Disease: Charcot-Marie-Tooth disease

S. Jakubiczka, S. Schulz, P. Wieacker

Department of Human Genetics, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany, e-mail: sibylle.jakubiczka@medizin.uni-magdeburg.de, Tel.: +49-391-6715343, Fax: +49-391-6715066

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0549

101

TGG-TAG

Trp-Term

Gene Symbol: GJB1

Disease: Charcot-Marie-Tooth disease

S. Jakubiczka, I. Wieland, M. Grieger, P. Wieacker

Department of Human Genetics, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany, e-mail: sibylle.jakubiczka@medizin.uni-magdeburg.de, Tel.: +49-391-6715343, Fax: +49-391-6715066

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0550

170

GTC-GAC

Val-Asp

Comments: c.509T > A

Gene Symbol: MPZ

Disease: Charcot-Marie-Tooth disease

S. Jakubiczka, I. Wieland, K. Wohlfahrt, N. Niederstrasser, P. Wieacker

Department of Human Genetics, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany, e-mail: sibylle.jakubiczka@medizin.uni-magdeburg.de, Tel.: +49-391-6715343, Fax: +49-391-6715066

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0551

144

CTG-CCG

Leu-Pro

Comments: c.434T > C

Gene Symbol: SPAST (SPG4)

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0552

385

GGG-TGG

Gly-Trp

Comments: Sporadic spastic paraplegia

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0553

444

GAT-GAG

Asp-Glu

Comments: Sporadic spastic paraplegia

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0554

581

CGA-TGA

Arg-Stop

Comments: Sporadic spastic paraplegia

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0555

461

CTA-CCA

Leu-Pro

Comments: Sporadic spastic paraplegia

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0556

503

CGG-TGG

Arg-Trp

Comments: Sporadic spastic paraplegia

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0557

238

CCC-ACC

Pro-Thr

Comments: Sporadic spastic paraplegia

Gene Symbol: AVP

Disease: Diabetes insipidus, neurohypophyseal

A.P. Abbes, H. Engel, E.J.M. Bruggeman, A.A.M. Franken

Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0558

65

cTGC-TTC

Cys-Phe

Comments: Dutch kindred

Gene Symbol: AVP

Disease: Diabetes insipidus, neurohypophyseal

A.P. Abbes, H. Engel, A.A.M. Franken

Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0559

87

gTCC-gTAC

Ser-Tyr

Comments: Dutch kindred

Gene Symbol: AVP

Disease: Diabetes insipidus, neurohypophyseal

A.P. Abbes, J.H. Davies, M. Penney, H. Engel, J.W. Gregory

Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0560

98

cTGC-cTCT

Cys-Ser

Comments: Welsh kindred

Gene Symbol: AVP

Disease: Diabetes insipidus, neurohypophyseal

A.P. Abbes, H. Engel, C. Klomp, E.J.M Bruggeman

Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610

Missense/Nonsense Mutations (single base-pair substitutions)

Accession Number

Codon Number/location

Nucleotide substitution

Amino acid substitution

Hm0561

92

gTGC-AGC

Cys-Ser

Comments: French kindred

Gene Symbol: ABCA4

Disease: Stargardt disease 1

R. Riveiro-Alvarez, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso

Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735

Splicing Mutations (single base-pair substitutions)

Accession Number

Intron designation

Donor/acceptor

Relative location

Nucleotide substitution

Hs0512

22

Donor

-2

A-T

Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.

Gene Symbol: PRPF31

Disease: Retinitis pigmentosa

Mamatha Gandra, Sreelekha Sundaramurthy, Govindasamy Kumaramanickavel

No 18 College road, Vision Research Foundation, Sankara Nethralaya, Nungambakkam, Chennai, Tamil nadu, India, e-mail: gmamatha5@rediffmail.com, Tel.: +91-44-28271616, Fax: +91-44-28254180

Splicing Mutations (single base-pair substitutions)

Accession Number

Intron designation

Donor/acceptor

Relative location

Nucleotide substitution

Hs0513

6

Donor

 

G-A

Comments: G/A substitution at +1 of Intron6

Gene Symbol: PRPF31

Disease: Retinitis pigmentosa

Mamatha Gandra, Sreelekha Sundaramurthy, Govindasamy Kumaramanickavel

SNONGC Department of Genetics & Molecular Biology, Vision Reserach Foundation, Sankara Nethralaya, 18 College road, Nungambakkam, Chennai, Tamilnadu 600006, India, e-mail: gmamatha5@rediffmail.com, Tel.: +91-44-28271616, Fax: +91-44-28254180

Splicing Mutations (single base-pair substitutions)

Accession Number

Intron designation

Donor/acceptor

Relative location

Nucleotide substitution

Hs0514

6

Donor

 

G-A

Comments: G/A +1Intron6, A splicing mutation found in an Indian autosomal dominant retinitis pigmentosa family

Gene Symbol: SPAST

Disease: spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Splicing Mutations (single base-pair substitutions)

Accession Number

Intron designation

Donor/acceptor

Relative location

Nucleotide substitution

Hs0515

Intron 1

Donor

+1

G-A

Comments: Sporadic spastic paraplegia

Gene Symbol: SPAST

Disease: Spastic paraparesis

C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr

INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658

Splicing Mutations (single base-pair substitutions)

Accession Number

Intron designation

Donor/acceptor

Relative location

Nucleotide substitution

Hs0516

Intron 1

Donor

+1

G-T

Comments: Sporadic spastic paraplegia