ABCMdb

PMID: 9254853

Hergersberg M, Balakrishnan J, Bettecken T, Chevalier-Porst F, Bragger C, Burger R, Einschenk I, Liechti-Gallati S, Morris M, Schorderet D, Thonney F, Moser H, Malik N
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.
Hum Genet. 1997 Aug;100(2):220-3., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Martin Hergersberg · Jaya Balakrishnan · Thomas Bettecken · Francoise Chevalier-Porst · Christian Brägger · René Burger · Inge Einschenk · Sabina Liechti-Gallati · Michael Morris · Daniel Schorderet · Francine Thonney · Hans Moser · Naseem Malik A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype Hum Genet (1997) 100:220-223 (c) Springer-Verlag 1997 Received: 17 February 1997 / Accepted: 26 March 1977 ORIGINAL INVESTIGATION M. Hergersberg (౧) · J. Balakrishnan · I. Einschenk Institut für Medizinische Genetik, Universität Zürich, Rämistrasse 74, CH-8001 Zurich, Switzerland Tel.: +411 257 25 35; Fax: +411 262 04 70; e-mail hergie@medgen.unizh.ch T. Bettecken · S. Liechti-Gallati · H. Moser Universitäts-Kinderklinik, Bern, Switzerland F. Chevalier-Porst Hôpital Debrousse, Lyon, France C. Brägger · R. Burger Universitäts-Kinderklinik, Zurich, Switzerland M. Morris Division de Génétique Médicale, Gèneve, Switzerland D. Schorderet · F. Thonney Division Autonome de Génétique Médicale, Lausanne, Switzerland N. Malik Abteilung für Medizinische Genetik, Universitätskinderklinik, Basel, Switzerland Materials and methods Patients and families All blood samples received by the five Swiss University Centres of medical genetics for mutation analysis in the CFTR gene were screened for the eight mutations ∆F508, R553X, 1717-1G→A, G542X, N1303K, W1282X, R347P and 3905insT (Table 1). Login to comment 42 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Using this method, the 3905insT mutation was found on 56 (4.8%) of "Swiss" CF chromosomes, but was not detected in more than 400 normal chromosomes, in more than 200 CF chromosomes with the ∆F508 mutation and in numerous CF chromosomes 221 Table 1 The frequency of eight common cystic fibrosis (CF) mutations among 1173 CF mutations in Switzerland Mutation Number of CF Frequency chromosomes (%) ∆F508 841 71.7 3905insT 56 4.8 R553X 43 3.7 1717-1G→A 39 3.3 G542X 23 2.0 N1303K 17 1.4 W1282X 13 1.1 R347P 7 0.6 Other mutations 21 1.9 Total 1060 90.4 Unidentified mutations 113 9. Login to comment