Search Results - (Author, Cooperation:X. Estivill)

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  1. 1
    S. Jacquemont ; A. Reymond ; F. Zufferey ; L. Harewood ; R. G. Walters ; Z. Kutalik ; D. Martinet ; Y. Shen ; A. Valsesia ; N. D. Beckmann ; G. Thorleifsson ; M. Belfiore ; S. Bouquillon ; D. Campion ; N. de Leeuw ; B. B. de Vries ; T. Esko ; B. A. Fernandez ; F. Fernandez-Aranda ; J. M. Fernandez-Real ; M. Gratacos ; A. Guilmatre ; J. Hoyer ; M. R. Jarvelin ; R. F. Kooy ; A. Kurg ; C. Le Caignec ; K. Mannik ; O. S. Platt ; D. Sanlaville ; M. M. Van Haelst ; S. Villatoro Gomez ; F. Walha ; B. L. Wu ; Y. Yu ; A. Aboura ; M. C. Addor ; Y. Alembik ; S. E. Antonarakis ; B. Arveiler ; M. Barth ; N. Bednarek ; F. Bena ; S. Bergmann ; M. Beri ; L. Bernardini ; B. Blaumeiser ; D. Bonneau ; A. Bottani ; O. Boute ; H. G. Brunner ; D. Cailley ; P. Callier ; J. Chiesa ; J. Chrast ; L. Coin ; C. Coutton ; J. M. Cuisset ; J. C. Cuvellier ; A. David ; B. de Freminville ; B. Delobel ; M. A. Delrue ; B. Demeer ; D. Descamps ; G. Didelot ; K. Dieterich ; V. Disciglio ; M. Doco-Fenzy ; S. Drunat ; B. Duban-Bedu ; C. Dubourg ; J. S. El-Sayed Moustafa ; P. Elliott ; B. H. Faas ; L. Faivre ; A. Faudet ; F. Fellmann ; A. Ferrarini ; R. Fisher ; E. Flori ; L. Forer ; D. Gaillard ; M. Gerard ; C. Gieger ; S. Gimelli ; G. Gimelli ; H. J. Grabe ; A. Guichet ; O. Guillin ; A. L. Hartikainen ; D. Heron ; L. Hippolyte ; M. Holder ; G. Homuth ; B. Isidor ; S. Jaillard ; Z. Jaros ; S. Jimenez-Murcia ; G. J. Helas ; P. Jonveaux ; S. Kaksonen ; B. Keren ; A. Kloss-Brandstatter ; N. V. Knoers ; D. A. Koolen ; P. M. Kroisel ; F. Kronenberg ; A. Labalme ; E. Landais ; E. Lapi ; V. Layet ; S. Legallic ; B. Leheup ; B. Leube ; S. Lewis ; J. Lucas ; K. D. MacDermot ; P. Magnusson ; C. Marshall ; M. Mathieu-Dramard ; M. I. McCarthy ; T. Meitinger ; M. A. Mencarelli ; G. Merla ; A. Moerman ; V. Mooser ; F. Morice-Picard ; M. Mucciolo ; M. Nauck ; N. C. Ndiaye ; A. Nordgren ; L. Pasquier ; F. Petit ; R. Pfundt ; G. Plessis ; E. Rajcan-Separovic ; G. P. Ramelli ; A. Rauch ; R. Ravazzolo ; A. Reis ; A. Renieri ; C. Richart ; J. S. Ried ; C. Rieubland ; W. Roberts ; K. M. Roetzer ; C. Rooryck ; M. Rossi ; E. Saemundsen ; V. Satre ; C. Schurmann ; E. Sigurdsson ; D. J. Stavropoulos ; H. Stefansson ; C. Tengstrom ; U. Thorsteinsdottir ; F. J. Tinahones ; R. Touraine ; L. Vallee ; E. van Binsbergen ; N. Van der Aa ; C. Vincent-Delorme ; S. Visvikis-Siest ; P. Vollenweider ; H. Volzke ; A. T. Vulto-van Silfhout ; G. Waeber ; C. Wallgren-Pettersson ; R. M. Witwicki ; S. Zwolinksi ; J. Andrieux ; X. Estivill ; J. F. Gusella ; O. Gustafsson ; A. Metspalu ; S. W. Scherer ; K. Stefansson ; A. I. Blakemore ; J. S. Beckmann ; P. Froguel
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-09-02
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Adolescent ; Adult ; Aged ; Aging ; Body Height/genetics ; *Body Mass Index ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/*genetics ; Cohort Studies ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Energy Metabolism/genetics ; Europe ; Female ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Gene Expression Profiling ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Head/anatomy & histology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Middle Aged ; Mutation/genetics ; North America ; Obesity/*genetics ; *Phenotype ; RNA, Messenger/analysis/genetics ; Sequence Deletion/genetics ; Thinness/*genetics ; Transcription, Genetic ; Young Adult
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    J. M. Tubio ; X. Estivill
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-02-26
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Apoptosis ; Bone Neoplasms/genetics/pathology ; Cell Survival ; Cell Transformation, Neoplastic/*genetics ; Chromosomes, Human/genetics/metabolism ; DNA Breaks ; DNA Copy Number Variations/genetics ; DNA Repair ; Disease Progression ; Genes, Neoplasm/genetics ; Humans ; Leukemia/genetics ; Mutagenesis/*genetics ; Mutation/*genetics ; Neoplasms/*genetics/*pathology ; Recombination, Genetic/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    X. S. Puente ; S. Bea ; R. Valdes-Mas ; N. Villamor ; J. Gutierrez-Abril ; J. I. Martin-Subero ; M. Munar ; C. Rubio-Perez ; P. Jares ; M. Aymerich ; T. Baumann ; R. Beekman ; L. Belver ; A. Carrio ; G. Castellano ; G. Clot ; E. Colado ; D. Colomer ; D. Costa ; J. Delgado ; A. Enjuanes ; X. Estivill ; A. A. Ferrando ; J. L. Gelpi ; B. Gonzalez ; S. Gonzalez ; M. Gonzalez ; M. Gut ; J. M. Hernandez-Rivas ; M. Lopez-Guerra ; D. Martin-Garcia ; A. Navarro ; P. Nicolas ; M. Orozco ; A. R. Payer ; M. Pinyol ; D. G. Pisano ; D. A. Puente ; A. C. Queiros ; V. Quesada ; C. M. Romeo-Casabona ; C. Royo ; R. Royo ; M. Rozman ; N. Russinol ; I. Salaverria ; K. Stamatopoulos ; H. G. Stunnenberg ; D. Tamborero ; M. J. Terol ; A. Valencia ; N. Lopez-Bigas ; D. Torrents ; I. Gut ; A. Lopez-Guillermo ; C. Lopez-Otin ; E. Campo
    Nature Publishing Group (NPG)
    Published 2015
    Staff View
    Publication Date:
    2015-07-23
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    3' Untranslated Regions/genetics ; Alternative Splicing/genetics ; B-Cell-Specific Activator Protein/biosynthesis/genetics ; B-Lymphocytes/metabolism ; Carrier Proteins/genetics ; Chromosomes, Human, Pair 9/genetics ; DNA Mutational Analysis ; DNA, Neoplasm/genetics ; Enhancer Elements, Genetic/genetics ; Genomics ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/metabolism/pathology ; Mutation/*genetics ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Receptor, Notch1/genetics/metabolism ; Transcription Factors/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    Publication Date:
    2015-08-11
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Body Patterning/genetics ; Cadherins/deficiency/*genetics/*metabolism ; Cell Movement/genetics ; Chromosomes, Human, Pair 11/genetics ; Female ; Humans ; Male ; Mice ; Mitral Valve/abnormalities/embryology/pathology/surgery ; Mitral Valve Prolapse/*genetics/*pathology ; Mutation/*genetics ; Pedigree ; Phenotype ; Protein Stability ; RNA, Messenger/genetics ; Zebrafish/genetics ; Zebrafish Proteins/genetics/metabolism
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  5. 5
    X. S. Puente ; M. Pinyol ; V. Quesada ; L. Conde ; G. R. Ordonez ; N. Villamor ; G. Escaramis ; P. Jares ; S. Bea ; M. Gonzalez-Diaz ; L. Bassaganyas ; T. Baumann ; M. Juan ; M. Lopez-Guerra ; D. Colomer ; J. M. Tubio ; C. Lopez ; A. Navarro ; C. Tornador ; M. Aymerich ; M. Rozman ; J. M. Hernandez ; D. A. Puente ; J. M. Freije ; G. Velasco ; A. Gutierrez-Fernandez ; D. Costa ; A. Carrio ; S. Guijarro ; A. Enjuanes ; L. Hernandez ; J. Yague ; P. Nicolas ; C. M. Romeo-Casabona ; H. Himmelbauer ; E. Castillo ; J. C. Dohm ; S. de Sanjose ; M. A. Piris ; E. de Alava ; J. San Miguel ; R. Royo ; J. L. Gelpi ; D. Torrents ; M. Orozco ; D. G. Pisano ; A. Valencia ; R. Guigo ; M. Bayes ; S. Heath ; M. Gut ; P. Klatt ; J. Marshall ; K. Raine ; L. A. Stebbings ; P. A. Futreal ; M. R. Stratton ; P. J. Campbell ; I. Gut ; A. Lopez-Guillermo ; X. Estivill ; E. Montserrat ; C. Lopez-Otin ; E. Campo
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-06-07
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Amino Acid Sequence ; Animals ; Carrier Proteins/genetics ; DNA Mutational Analysis ; Genome, Human/*genetics ; Humans ; Karyopherins/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/*genetics ; Molecular Sequence Data ; Mutation/*genetics ; Myeloid Differentiation Factor 88/chemistry/genetics ; Receptor, Notch1/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Reproducibility of Results
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  6. 6
    T. Lappalainen ; M. Sammeth ; M. R. Friedlander ; P. A. t Hoen ; J. Monlong ; M. A. Rivas ; M. Gonzalez-Porta ; N. Kurbatova ; T. Griebel ; P. G. Ferreira ; M. Barann ; T. Wieland ; L. Greger ; M. van Iterson ; J. Almlof ; P. Ribeca ; I. Pulyakhina ; D. Esser ; T. Giger ; A. Tikhonov ; M. Sultan ; G. Bertier ; D. G. MacArthur ; M. Lek ; E. Lizano ; H. P. Buermans ; I. Padioleau ; T. Schwarzmayr ; O. Karlberg ; H. Ongen ; H. Kilpinen ; S. Beltran ; M. Gut ; K. Kahlem ; V. Amstislavskiy ; O. Stegle ; M. Pirinen ; S. B. Montgomery ; P. Donnelly ; M. I. McCarthy ; P. Flicek ; T. M. Strom ; H. Lehrach ; S. Schreiber ; R. Sudbrak ; A. Carracedo ; S. E. Antonarakis ; R. Hasler ; A. C. Syvanen ; G. J. van Ommen ; A. Brazma ; T. Meitinger ; P. Rosenstiel ; R. Guigo ; I. G. Gut ; X. Estivill ; E. T. Dermitzakis
    Nature Publishing Group (NPG)
    Published 2013
    Staff View
    Publication Date:
    2013-09-17
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Alleles ; Cell Line, Transformed ; Exons/genetics ; Gene Expression Profiling ; Genetic Variation/*genetics ; Genome, Human/*genetics ; *High-Throughput Nucleotide Sequencing ; Humans ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics ; RNA, Messenger/analysis/genetics ; *Sequence Analysis, RNA ; Transcriptome/*genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  7. 7
    Staff View
    ISSN:
    1546-1718
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Medicine
    Notes:
    [Auszug] ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of ΔF508 chromosomes in Europe. Haplotype data demonstrate that ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/ng0694-169

    Articles: DFG German National Licenses
  8. 8
    Gasparini, P. ; Nunes, V. ; Dognini, M. ; Estivill, X.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(91)90200-X

    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(91)90500-E

    Articles: DFG German National Licenses
  10. 10
    Bosch, A. ; Nunes, V. ; Patterson, D. ; Estivill, X.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1006/geno.1993.1442

    Articles: DFG German National Licenses
  11. 11
    Morral, N. ; Estivill, X.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(92)90071-Y

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(90)90446-2

    Articles: DFG German National Licenses
  13. 13
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(87)90052-8

    Articles: DFG German National Licenses
  14. 14
    Lazaro, C. ; Estivill, X.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0890-8508
    Keywords:
    SSCP ; cystic fibrosis ; mutation analysis ; neurofibromatosis type 1
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0890-8508(92)90027-U

    Articles: DFG German National Licenses
  15. 15
    Morral, N. ; Nunes, V. ; Casals, T. ; Estivill, X.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(91)90454-M

    Articles: DFG German National Licenses
  16. 16
    Staff View
    ISSN:
    0309-1651
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/S0309-1651(86)80002-9

    Articles: DFG German National Licenses
  17. 17
    Staff View
    ISSN:
    0309-1651
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/S0309-1651(86)80002-9

    Articles: DFG German National Licenses
  18. 18
    Staff View
    ISSN:
    1438-2199
    Keywords:
    rBAT ; SLC3A1 gene ; Cystinuria ; System b0,+-like
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary The cDNAs of mammalian amino acid transporters already identified could be grouped into four families. One of these protein families is composed of the protein rBAT and the heavy chain of the cell surface antigen 4F2 (4F2hc). The cRNAs of rBAT and 4F2hc induce amino acid transport activity via systems b0,+ -like and y+L -like inXenopus oocytes respectively. Surprisingly, neither rBAT nor 4F2hc is very hydrophobic, and they seem to be unable to form a pore in the plasma membrane. This prompted the hypothesis that rBAT and 4F2hc are subunits or modulators of the corresponding amino acid transporters. The association of rBAT with a light subunit of ~40kDa has been suggested, and such an association has been demonstrated for 4F2hc. The b0,+-like system expressed in oocytes by rBAT cRNA transports L-cystine, L-dibasic and L-neutral amino acids with high-affinity. This transport system shows exchange of amino acids through the plasma membrane ofXenopus oocytes, suggesting a tertiary active transport mechanism. The rBAT gene is mainly expressed in the outer stripe of the outer medulla of the kidney and in the mucosa of the small intestine. The protein localizes to the microvilli of the proximal straight tubules (S3 segment) of the nephron and the mucosa of the small intestine. All this suggested the participation of rBAT in a high-affinity reabsorption system of cystine and dibasic amino acids in kidney and intestine, and indicated rBAT (named SLC3A1 in Gene Data Bank) as a good candidate gene for cystinuria. This is an inherited aminoaciduria due to defective renal and intestinal reabsorption of cystine and dibasic amino acids. The poor solubility of cystine causes the formation of renal cystine calculi. Mutational analysis of the rBAT gene of patients with cystinuria is revealing a growing number (~20) of cystinuria-specific mutations, including missense, nonsense, deletions and insertions. Mutations M467T (substitution of methionine 467 residue for threonine) and R270X (stop codon at arginine residue 270) represent approximately half of the cystinuric chromosomes where mutations have been found. Mutation M467T reduces transport activity of rBAT in oocytes. All this demonstrates that mutations in the rBAT gene cause cystinuria. Three types of cystinuria (types, I, II and III) have been described on the basis of the genetic, biochemical and clinical manifestations of the disease. Type I cystinuria has a complete recessive inheritance; type I heterozygotes are totally silent. In contrast, type II and III heterozygotes show, respectively, high or moderate hyperaminoaciduria of cystine and dibasic amino acids. Type III homozygotes show moderate, if any, alteration of intestinal absorption of cystine and dibasic amino acids; type II homozygotes clearly show defective intestinal absorption of these amino acids. To date, all the rBAT cystinuria-specific mutations we have found are associated with type I cystinuria (~70% of the chromosomes studied) but not to types II or III. This strongly suggests genetic heterogeneity for cystinuria. Genetic linkage analysis with markers of the genomic region of rBAT in chromosome 2 (G band 2p16.3) and intragenic markers of rBAT have demonstrated genetic heterogeneity for cystinuria; the rBAT gene is linked to type I cystinuria, but not to type III. Biochemical, genetic and clinical studies are needed to identify the additional cystinuria genes; a low-affinity cystine reabsortion system and the putative light subunit of rBAT are additional candidate genes for cystinuria.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00813862

    Articles: DFG German National Licenses
  19. 19
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract We have analyzed 640 Spanish cystic fibrosis (CF) families for mutations in the CFTR gene by direct mutation analysis, microsatellite haplotypes, denaturing gradient gel electrophoresis, single-strand conformation analysis and direct sequencing. Seventy-five mutations account for 90.2% of CF chromosomes. Among these we have detected seven novel CFTR mutations, including four missense (G85V, T582R, R851L and F1074L), two nonsense (E692X and Q1281X) and one splice site mutation (711+3A→T). Three variants, two in intronic regions (406-112A/T and 3850-129T/C) and one in the coding region (741C/T) were also identified. Mutations G85V, T582R, R851L, E692X and Q1281X are severe, with lung and pancreatic involvement; 711+3A→T could be responsible for a pancreatic sufficiency/insufficiency variable phenotype; and F1074L was associated with a mild phenotype. These data demonstrate the highest molecular heterogeneity reported so far in CF, indicating that a wide mutation screening is necessary to characterize 90% of the Spanish CF alleles.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050643

    Articles: DFG German National Licenses
  20. 20
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract. Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patients with recessive or sporadic deafness from Italy and Spain, 193 of them being referred as autosomal recessive, and the other 383 as apparently sporadic cases (singletons). Of the 1152 unrelated GJB2 chromosomes analyzed from these patients, 37% had GJB2 mutations. Twenty-three different mutations were detected (1 in-frame deletion, 4 nonsense, 5 frameshift, and 13 missense mutations). Mutation 35delG was the most common, accounting for 82% of all GJB2 deafness alleles. The relative frequency of 35delG in Italy and Spain was different, representing 88% of the alleles in Italian patients and only 55% in the Spanish cases. Eight non-35delG mutations were detected more than once (V37I, E47X, 167delT, L90P, 312del14, 334delAA, R143W, and R184P), with relative frequencies ranging between 0.5 and 1.6% of the GJB2 deafness alleles. The information based on conservation of amino acid residues, coexistence with a second GJB2 mutation or absence of the mutation in non-deaf control subjects, suggests that most of these missense changes should be responsible for the deafness phenotype.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004399900192

    Articles: DFG German National Licenses