ABCMdb

PMID: 19457724

Moya-Quiles MR, Glover G, Mondejar-Lopez P, Pastor-Vivero MD, Fernandez-Sanchez A, Sanchez-Solis M
CFTR H609R mutation in Ecuadorian patients with cystic fibrosis.
J Cyst Fibros. 2009 Jul;8(4):280-1. Epub 2009 May 19., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.His609Arg Case report CFTR H609R mutation in Ecuadorian patients with cystic fibrosis María Rosa Moya-Quiles a,⁎, Guillermo Glover a , Pedro Mondéjar-López b , María Dolores Pastor-Vivero b , Asunción Fernández-Sánchez a , Manuel Sánchez-Solís b a Centro de Bioquímica y Genética Clínica, Hospital Virgen de la Arrixaca, El Palmar, Murcia, 30120, Spain b Unidad de Fibrosis Quística, Hospital Virgen de la Arrixaca, Murcia, 30120, Spain Received 24 March 2009; received in revised form 27 April 2009; accepted 6 May 2009 Available online 19 May 2009 Abstract Mutation epidemiology in each ethnic group is important for cystic fibrosis diagnosis and genetic counselling. Login to comment 2 ABCC7 p.His609Arg We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. Login to comment 6 ABCC7 p.His609Arg (c) 2009 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved. Keywords: CFTR gene; Cystic fibrosis; Ecuador; H609R; Mutation 1. Login to comment 7 ABCC7 p.His609Arg Keywords: CFTR gene; Cystic fibrosis; Ecuador; H609R; Mutation 1. Login to comment 13 ABCC7 p.Gly551Asp ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu There are two other reports of mutations on the CFTR gene in CF patients from Ecuador; in the first, the estimated Ecuadorian CF incidence was 1:11,252 and mutations were, in order of frequency, F508del (37.1%), G85E (8.9%), G542X (2.4%), N1303K (2.4%), G551D (1.6%) and R334W (0.8%), with a detection rate of 53.22% of the total CF chromosomes studied [7]. Login to comment 14 ABCC7 p.Gly551Asp ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu There are two other reports of mutations on the CFTR gene in CF patients from Ecuador; in the first, the estimated Ecuadorian CF incidence was 1:11,252 and mutations were, in order of frequency, F508del (37.1%), G85E (8.9%), G542X (2.4%), N1303K (2.4%), G551D (1.6%) and R334W (0.8%), with a detection rate of 53.22% of the total CF chromosomes studied [7]. Login to comment 15 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu In the second report, a compilation of data from CFTR gene analysis in Latin American CF patients, four mutations were found: F508del (31.37%), G542X (1.96%), G85E (1.96%) and N1303K (1.96%), with 63.7% of Ecuadorian CF mutations remaining unidentified [6]. Login to comment 25 ABCC7 p.His609Arg Case reports The four CF patients homozygous for the mutation H609R in the CFTR gene were identified among the six Ecuadorian patients diagnosed at the CF Unit at University Hospital Virgen Arrixaca in Murcia (Spain) and their clinical phenotypes are shown in Table 1. Login to comment 26 ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu Genotypes G85E/G85E and G85E/S549R were found in the other two patients. Login to comment 27 ABCC7 p.His609Arg ABCC7 p.His609Arg Case reports The four CF patients homozygous for the mutation H609R in the CFTR gene were identified among the six Ecuadorian patients diagnosed at the CF Unit at University Hospital Virgen Arrixaca in Murcia (Spain) and their clinical phenotypes are shown in Table 1. Login to comment 28 ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu Genotypes G85E/G85E and G85E/S549R were found in the other two patients. Login to comment 29 ABCC7 p.His609Arg The H609R mutation was identified by sequencing after genotype testing for the most common CFTR mutations revealed a negative result. Login to comment 30 ABCC7 p.His609Arg In all cases, the sweat chloride test was abnormal (N60 mEq/L), and the mutation H609R was associated with a severe CF phenotype based on clinical features. Login to comment 32 ABCC7 p.His609Arg ABCC7 p.His609Arg ABCC7 p.His609Arg In all cases, the sweat chloride test was abnormal (N60 mEq/L), and the mutation H609R was associated with a severe CF phenotype based on clinical features. Login to comment 34 ABCC7 p.His609Arg ABCC7 p.His609Arg ABCC7 p.His609Arg Discussion The mutation H609R is caused by the transition of an A to G at nucleotide 1958 in exon 13, and results in the substitution of a histidine to an arginine at position 609 of the protein, a mutation first described by Bienvenu et al. [3] in a CF patient from Columbia but unfortunately, no clinical data were available. Login to comment 36 ABCC7 p.His609Arg Thus, this is the first report of detection of the H609R mutation in the Ecuadorian population. Login to comment 38 ABCC7 p.His609Arg The four patients in our study, all homozygous for mutation H609R, provide some help in understanding the effect of this mutation on CFTR gene function, showing it to be a severe mutation, associated with typical CF. Login to comment 39 ABCC7 p.His609Arg Although further studies of greater numbers of Ecuadorian CF patients should be carried out to determine the frequency of the H609R mutation in this ethnic group, our study is important in relation to testing for CF in Ecuador and in European countries where immigration from Ecuador is common. Login to comment 40 ABCC7 p.His609Arg The four patients in our study, all homozygous for mutation H609R, provide some help in understanding the effect of this mutation on CFTR gene function, showing it to be a severe mutation, associated with typical CF. Login to comment 41 ABCC7 p.His609Arg ABCC7 p.His609Arg Although further studies of greater numbers of Ecuadorian CF patients should be carried out to determine the frequency of the H609R mutation in this ethnic group, our study is important in relation to testing for CF in Ecuador and in European countries where immigration from Ecuador is common. Login to comment 43 ABCC7 p.His609Arg Our results suggest that Ecuadorian patients whose CF mutations test negative using standard commercial panels should have direct analysis of mutation H609R since this may be a common mutation in this ethnic group, possibly accounting for a significant percentage of unidentified CF alleles. Login to comment