ABCMdb

ABCC7 p.His609Arg

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Publications

PMID: 11883825 [PubMed] Padoan R et al: "Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis."

No. Sentence Comment

40 Mutation Frequency (%) DelF508 54 N1303K 8 G542X 6.25 1717-1G ® A 2.50 R334W 1.75 2183AA ® G 1.50 R117H, L1077P, W1282X 1.25 D110E, R347P, E585X, 2789 ‡ 5G ® A 0.75 R352Q, R553X, R1066H, D1152H, R1158X, 1782delA, 1898 ‡ 1G ® A, 3659delC 0.50 G85E, R117L, G178R, D579G, H609R, Y1032C, V1153E, R1162X, 621 ‡ 1G ® T, 711 ‡ 1G ® T, 1845delAG o 1846delGA, 2143delT 0.25 Table2.Differencesinthethreestrategiesofneonatalscreening(audit1990-1999). Login to comment

PMID: 16189704 [PubMed] McGinniss MJ et al: "Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples."

No. Sentence Comment

73 The patient with the Table 3 Classic CF patients in whom extensive sequencing revealed two CFTR mutations Phenotype Age (years) Sweat chloride concentration (mmol/l) Genotype after sequencing CF; meconium ileus at birth; respiratory symptoms 12 110,115 p.V358I/c.1198del6 CF; pulmonary symptoms; partial PI 30 Pos c.2307insA/p.S945L Classic CF; pancreatic and pulmonary symptoms 22 >100 p.H609R/c.1641AG>Ta Classic CF 10 ? Login to comment

PMID: 20100616 [PubMed] Havasi V et al: "Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens."

No. Sentence Comment

68 Portuguese CFTR alleles Spanish CFTR alleles Turkish CFTR alleles 5T 22 F508del 11 5T 20 F508del 14 5T 9 D1152H 14 R334W 5 D443Ya 3 D110H 3 R117H 3 G576Aa 3 F508del 2 S1235R 3 R668Ca 3 3041-11del7 2 N1303K 2 G542X 2 1767del6 2 P205S 2 R117H 2 2789þ5G>A 2 D614G 2 V232D 2 CFTRdele2(ins186) 2 G542X 1 L997F 1 3120þ1G>A 1 L206W 1 H609R 1 G1130A 1 V562I 1 N1303H 1 M952I 1 I507del 1 L206W 1 365insT 1 3272-26A>G 1 3272-26A/G 1 E585X 1 2789þ5G>A 1 L15P 1 2752-15C>G 1 G576Aa 1 R347H 1 R334Q 1 R668Ca 1 2689insG 1 R347H 1 CFTRdele2,3 1 R1070W 1 E831X 1 L1227S 1 I 1027T 1 R1070W 1 E831X 1 3272-26A>G 1 L997F 1 I853F 1 A349V 1 6T 1 Note: CFTR ¼ cystic fibrosis transmembrane conductance regulator. Login to comment

PMID: 12938099 [PubMed] Keyeux G et al: "CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs."

No. Sentence Comment

56 The third mutation located in exon 13, p.H609R (A to G at position 1958), produces a His to Arg replacement in the R domain of the protein. Login to comment
57 The compound [p.F508del]+[p.H609R] patient, although having elevated sweat chloride levels (114mEq/l), has a mild course of the disease, with pancreatic sufficiency (PS). Login to comment
69 Comparison of the Spectrum of CFTR Mutations in Colombia and Other Ibero-American Countries COLOMBIA1 SPAIN2 MEXICO3 ARGENTINA4 BRAZIL5 MUTATION n=92 n=1356 n=194 n=228 n=272 % % % % % p.F508del 41.8 54.42 40.72 57 45.6 p.G542X 3.8 7.7 6.18 3.94 6.6 p.W1282X 1.1 0.5 0 3.07 2.2 p.R1162X 1.1 1.3 0 0.43 4.4 p.N1303K 0.5 2.5 2.06 1.75 2.9 c.1811+1.6KbA>G 6.5 1.5 0 0.43 0 p.S549R 2.2 0.07 0 0 0 p.A559T 0.5 0 0 0 0 p.Y1092X 0.5 0.01 0.51 0 0 p.R334W 0.5 0.9 0 0 2.9 c.1215delG 0.5 0 0 0 0 c.2185_2186insC 0.5 0 0 0 0 c.2789+5G>A 0.5 0.7 0 0.43 0 c.3120+1G>A 0.5 0 0 0 0 c.3849+1G>A 0.5 0 0 0 0 p.R1066C 0.5 0.7 0 0.43 0 c.3500-2A>G (novel) 0.5 0 0 0 0 c.1323_1324insA (novel) 0.5 0 0 0 0 p.H609R (novel) 0.5 0 0 0 0 Other a (# mutations) - (32) 1.8 (30) 5.28 (9) 4.89 (8) 6.98 Unknown 36.4 17.9 25.25 27.63 28.3 a The frequencies of the other rare mutations found in Spain, Mexico, Argentina and Brazil are pooled together, and the number of different mutations is given in parenthesis. Login to comment

PMID: 19457724 [PubMed] Moya-Quiles MR et al: "CFTR H609R mutation in Ecuadorian patients with cystic fibrosis."

No. Sentence Comment

0 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 We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. Login to comment
7 Keywords: CFTR gene; Cystic fibrosis; Ecuador; H609R; Mutation 1. Login to comment
27 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
29 The H609R mutation was identified by sequencing after genotype testing for the most common CFTR mutations revealed a negative result. Login to comment
32 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 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 Thus, this is the first report of detection of the H609R mutation in the Ecuadorian population. Login to comment
40 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 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 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
6 (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
25 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
30 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
38 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 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

PMID: 14685937 [PubMed] Groman JD et al: "Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign."

No. Sentence Comment

37 Each of the 98 patients with CBAVD had 5T with one of the following mutations: DF508 (78), G542X (6), N1303K (3), 711af9;1GrT (2), R1066C (2), R1162X (2), R764X (1), Y563X (1), H609R (1), L206W (1), or R334W (1). Login to comment