Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

September 2000

Volume 16, Issue 3

Pages 183–279

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Activating and inactivating mutations in the human GNAS1 gene (pages 183–189)

      Micheala A. Aldred and Richard C. Trembath

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L

    2. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins (pages 190–202)

      Raquel Rabionet, Paolo Gasparini and Xavier Estivill

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans (pages 203–210)

      Joni B. Drost, William A. Scaringe, Ana Rebeca Jaloma-Cruz, Xuemin Li, Diego F. Ossa, Carol K. Kasper and Steve S. Sommer

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<203::AID-HUMU3>3.0.CO;2-1

    2. A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints (pages 211–223)

      Edgar Otto, Regina Betz, Cornelia Rensing, Silvia Schätzle, Thomas Kuntzen, Thalia Vetsi, Anita Imm and Friedhelm Hildebrandt

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y

    3. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome (pages 224–231)

      Dong Wang, Pamela Kranz-Eble and Darryl C. De Vivo

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P

    4. Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia (pages 232–246)

      K. Laake, L. Jansen, J.M. Hahnemann, K. Brøndum-Nielsen, T. Lönnqvist, H. Kääriäinen, R. Sankila, A. Lähdesmäki, L. Hammarström, J. Yuen, S. Tretli, A. Heiberg, J.H. Olsen, M. Tucker, R. Kleinerman and A-L. Børresen-Dale

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L

    5. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) (pages 247–252)

      E. Schollen, L. Dorland, T.J. de Koning, O.P. Van Diggelen, J.G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze and G. Matthijs

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension (pages 253–263)

      B. Gérard, N. Ginet, G. Matthijs, P. Evrard, C. Baumann, F. Da Silva, M. Gérard-Blanluet, M. Mayer, B. Grandchamp and J. Elion

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8

  4. Letter to the Editor

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G (page 264)

      Stan R. Svojanovsky, Thomas D. Schneider and Peter K. Rogan

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<264::AID-HUMU9>3.0.CO;2-1

  5. Meeting Report

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. 8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada (pages 265–268)

      Arleen D. Auerbach

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<265::AID-HUMU10>3.0.CO;2-H

  6. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia (page 269)

      Orit Jakobovitz-Picard, David Olchovsky, Meir Berezin, Azizela Ghodsizade, Zvi Zahavi, Avraham Karasik, Gideon Rechavi and Eitan Friedman

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2

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      Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria (pages 269–270)

      Manuel Mendez, María Victoria Rossetti, Adriana De Siervi, Alcira M. del Carmen Batlle and Victoria Parera

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<269::AID-HUMU12>3.0.CO;2-#

    3. You have free access to this content
      Novel mutations in the myocilin gene in Japanese glaucoma patients (page 270)

      Ryo Kubota, Yukihiko Mashima, Yuichiro Ohtake, Tomihiko Tanino, Tairo Kimura, Yoshihiro Hotta, Atsushi Kanai, Satoru Tokuoka, Ikuo Azuma, Hidenobu Tanihara, Masaru Inatani, Yoichi Inoue, Jun Kudoh, Yoshihisa Oguchi and Nobuyoshi Shimizu

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M

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      A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect (pages 270–271)

      Akio Koizumi, Yutaka Shoji, Jun-nichi Nozaki, Atsuko Noguchi, Xiaofei E, Miwako Dakeishi, Toshihiro Ohura, Kayo Tsuyoshi, Wada Yasuhiko, Motomu Manabe, Yuhei Takasago and Goro Takada

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<270::AID-HUMU14>3.0.CO;2-J

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      Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations (page 271)

      M. Gomez Lira, M. Mottes, P.F. Pignatti, I. Medica, G. Uziel, M. Cappa, E. Bertini, N. Rizzuto and A. Salviati

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D

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      MEFV mutations in Behçet's disease (pages 271–272)

      Isabelle Touitou, Xavier Magne, Nicolas Molinari, André Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Ozen, Aysin Bakkaloglu, Aysen Karaduman, Jean Marc Garnier, Jacques Demaille and Isabelle Koné-Paut

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A

    7. You have free access to this content
      BRCA1 mutation analysis in breast/ovarian cancer families from Greece (pages 272–273)

      Irene Konstantopoulou, Christos Kroupis, Angela Ladopoulou, Alexandros Pantazidis, Dimitra Boumba, Evriklia S. Lianidou, Michael B. Petersen, Lina Florentin, Efstratios Chiotellis, George Nounesis, Eleni Efstathiou, Dimosthenis Skarlos, Christina Tsionou, George Fountzilas and Drakoulis Yannoukakos

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<272::AID-HUMU17>3.0.CO;2-4

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      Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY) (page 273)

      Sian Ellard, Michael P. Bulman, Timothy M. Frayling, Maggie Shepherd and Andrew T. Hattersley

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<273::AID-HUMU18>3.0.CO;2-Z

    9. You have free access to this content
      Sequence variation within the RPGR gene: Evidence for a founder complex allele (pages 273–274)

      Ilaria Zito, Alex Morris, Phil Tyson, Ingrid Winship, Dianne Sharp, Dale Gilbert, Dawn L. Thiselton, Shomi S. Bhattacharya and Alison J. Hardcastle

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W

    10. You have free access to this content
      Two distinct alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations (page 274)

      Hao Pang, Noboru Fujitani, Mikiko Soejima, Yoshiro Koda, Mohammed Nasimul Islam, A.K.M. Shamsul Islam and Hiroshi Kimura

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<274::AID-HUMU20>3.0.CO;2-I

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      NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1 (pages 274–275)

      E. Girodon Boulandet, J. Pantel, C. Cazeneuve, M. Van Gijn, D. Vidaud, S. Lemay, J. Martin, J. Zeller, J. Revuz, M. Goossens, S. Amselem and P. Wolkenstein

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<274::AID-HUMU21>3.0.CO;2-F

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      A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa (page 275)

      Rita Gardella, Sergio Barlati, Nicoletta Zoppi, Gianluca Tadini and Marina Colombi

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<275::AID-HUMU22>3.0.CO;2-9

    13. You have free access to this content
      An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese (pages 275–276)

      Guangxun Meng, Jinduo Yuan, Liguo An, Jialei Gong, Hanmin Zhu, Sisong Cui, Zhengyan Yu and Gengxi Hu

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<275::AID-HUMU23>3.0.CO;2-6

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Meeting Report
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree (page 277)

      George Miltiadous, Moses Elisaf, Stavroulla Xenophontos, Panayiotis Manoli and Marios A. Cariolou

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y

    2. A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia (page 277)

      Aldo Giannotti, Alessandra Tessa, Clarice Patrono, Lucia De Florio, Margherita Velardo, Carlo Dionisi-Vici, Enrico Bertini and Filippo M. Santorelli

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V

    3. A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene (page 277)

      Hans Hermann Seydewitz, Tanja Gonska, Marcus Mall and Joachim Kueh

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<277::AID-HUMU26>3.0.CO;2-S

    4. CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C (pages 277–278)

      Petr A. Slominsky, Marya I. Shadrina, Ekaterina A. Kondratyeva, Tatiana V. Tupitsina, Gleb N. Levitsky, Veronika I. Skvortsova and Svetlana A. Limborska

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<277::AID-HUMU27>3.0.CO;2-P

    5. A new frameshift mutation at codon 466 (1397delA) within the LMNA gene (page 278)

      Janine Genschel, Peter Baier, Susanne Kuepferling, Marcus J. Proepsting, Carsten Buettner, Ralf Ewert, Roland Hetzer, Herbert Lochs and Hartmut H.-J. Schmidt

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<278::AID-HUMU28>3.0.CO;2-J

    6. A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family? (page 278)

      Carlos Reig, María Martinez-Gimeno and Miguel Carballo

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<278::AID-HUMU29>3.0.CO;2-G

    7. Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene (page 278)

      Janine Genschel, Grit Sommer, Regina Haas, Carsten Buettner, Bettina Bochow, Michael Manns, Herbert Lochs and Hartmut H.-J. Schmidt

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<278::AID-HUMU30>3.0.CO;2-5

    8. A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus (page 279)

      Manuela Seia, Angelo Cantù-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Carlo Corbetta, Alessandra Bassotti, Elena Moretti, Annamaria Giunta and Rita Padoan

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#

    9. Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene (page 279)

      Asako Horinishi, Toshio Murase and Minoru Okubo

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<279::AID-HUMU32>3.0.CO;2-X

    10. Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association (page 279)

      Yumiko Umino, Hirohiko Hohjoh and Katsushi Tokunaga

      Article first published online: 6 SEP 2000 | DOI: 10.1002/1098-1004(200009)16:3<279::AID-HUMU33>3.0.CO;2-U

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