ABCC7 p.Leu568*
| ClinVar: |
c.1703T>A
,
p.Leu568*
?
, not provided
c.1704G>T , p.Leu568Phe ? , not provided |
| CF databases: |
c.1704G>T
,
p.Leu568Phe
(CFTR1)
D
, L568F was found in a heterozygous CBAVD patient with yet unidentified mutations on their other alleles.
|
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[hide] A novel missense mutation A1081P in the cystic fib... J Trop Pediatr. 2004 Aug;50(4):239-40. Ngukam A, Jacquemont ML, Souville I, Viel M, Beldjord C, Hubert D, Hughes JN, Bienvenu T
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
J Trop Pediatr. 2004 Aug;50(4):239-40., [PMID:15357566]
Abstract [show]
Cystic fibrosis is the most common autosomal disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the vas deferens and identified a novel missense mutation in exon 17b (3373G>C). Identification of novel mutations in this Asian population is of particular interest when designing a genetic testing strategy in Asian countries and also in other countries where immigration from Asia is common.
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No. Sentence Comment
4 Only a few CFTR mutations have been identified in that population (L88X, M152R, K166E, F508del, 1742delAC, 1525-18G>A, 1540del10, L568X, 1898ϩ1G>T, 1898ϩ5G>T, G970D, 451-458del8, 3121-2A>G, H1085R).1-6 We report here a novel missense mutation in a Laotian patient with congenital bilateral absence of the vas deferens (CBAVD).
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ABCC7 p.Leu568* 15357566:4:130
status: NEW[hide] Detection of F508del mutation in cystic fibrosis t... Singapore Med J. 2006 Feb;47(2):129-33. Zilfalil BA, Sarina S, Liza-Sharmini AT, Oldfield NJ, Stenhouse SA
Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays.
Singapore Med J. 2006 Feb;47(2):129-33., [PMID:16435054]
Abstract [show]
INTRODUCTION: Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays. METHODS: We analysed 50 blood samples from healthy Malays with no symptoms of CF. DNA was extracted from blood using commercially available extraction kits (Eppendorf, Germany). Identification of CFTR gene mutation was performed using the CF OLA (Oligonucleotide Ligation Assay) kit (Applied Biosystems, USA). The PCR-ligation products were electrophoresed on eight percent sequagel using an ABI PRISM 377 genetic analyser (Applied Biosystems, USA). Electrophoresis data was analysed using the Genotyper software and a report of the CF genotype for all loci tested was created using the CF Genotyper Template software. Out of 50, one sample (two percent) was detected to have the F508del mutation (3bp deletion at exon 10), which is one of the most common CFTR gene mutations in Caucasians. RESULTS: The F508del mutation allele was detected in one subject. This indicates that she was a CF carrier. CONCLUSION: We report the finding of a carrier of the F508del mutation of the CFTR gene in the Malay population. Our finding revealed that CF could also affect the Malay population. Larger studies are necessary to determine the exact gene frequency of this population.
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76 The novel mutations found in Asian populations include a missense mutation A1081P in CFTR gene reported on a Loatian patient with CBAVD(6) , two novel mutations, E7X and 989-992insA, in a Taiwanese cystic fibrosis patient(7) and three Asian mutations, K166E, L568X and 3121-2A‡G (in homozygosity), reported by Macek et al(8) .
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ABCC7 p.Leu568* 16435054:76:259
status: NEW[hide] Sensitivity of the denaturing gradient gel electro... Hum Mutat. 1997;9(2):136-47. Macek M Jr, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Hum Mutat. 1997;9(2):136-47., [PMID:9067754]
Abstract [show]
More than 500 mutations have been identified in the CFTR gene, making it an excellent system for testing mutation scanning techniques. To assess the sensitivity of denaturing gradient gel electrophoresis (DGGE), we collected a representative group of 202 CFTR mutations. All mutations analyzed were detected by scanning methods other than the DGGE approach evaluated in this study. DGGE analysis was performed on 24 of the 27 exons and their flanking splice site sequences. After optimization, 201 of the 202 control samples produced an altered migration pattern in the region in which an alteration occurred. The remaining sample was sequenced and found not to have the reported mutation. The ability of DGGE to identify novel mutations was evaluated in three Asian CF patients with four unknown CF alleles. Three novel Asian mutations were detected-K166E, L568X, and 3121-2 A-->G (in homozygosity)-accounting for all CF alleles. These results indicate that an optimized DGGE scanning strategy is highly sensitive and specific and can detect 100% of mutations.
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No. Sentence Comment
8 Three novel Asian mutations were detected-K166E, L568X, and 3121-2 AÃG (in homozygosity)-accounting for all CF alleles.
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ABCC7 p.Leu568* 9067754:8:49
status: NEW115 Three novel mutations K166E, L568X, and 3121-2 AÃG (in homozygosity) were discovered accounting for all unknown CF alleles (Table 2).
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ABCC7 p.Leu568* 9067754:115:29
status: NEW118 Moreover, the base substitution responsible for the novel L568X mutation (TÃA) belongs to the category of "conservative transversions."
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ABCC7 p.Leu568* 9067754:118:58
status: NEW128 Finally, the L568X nonsense mutation was identified in the 2-year-old Vietnamese CF patient.
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ABCC7 p.Leu568* 9067754:128:13
status: NEW137 Novel CFTR Mutations Identified in Asian CF Patientsa Mutation Nucloetide change Exon/intron Consequence CFTR domain K166E AÃG at 628 E5 Lys à Glu at 166 L568X TÃA at 1835 E12 Leu à stop NBD I 31212 AÃG AÃG at 31212 I16 Splice mutation TM 9 The position of a nucleotide change together with its location in the CFTR gene (E, exon; I, intron) and the amino acid designation are according to Zielenski et al. (1991).
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ABCC7 p.Leu568* 9067754:137:171
status: NEW