ABCMdb

ABCC6 p.Arg1357Trp

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Publications

PMID: 15645653 [PubMed] Noji Y et al: "Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)."

No. Sentence Comment

5 One is a missense mutation (c.3661C>T; p.R1221C) in exon 26 and the other is a missense mutation (c.4069C>T; p.R1357W) in exon 29. Login to comment
20 Internal Medicine Vol. 43, No. 12 (December 2004) 1171 Identification of Two Novel Missense Mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) Gene in a Japanese Patient with Pseudoxanthoma Elasticum (PXE) Yoshihiro NOJI, Akihiro INAZU, Toshinori HIGASHIKATA, Atsushi NOHARA, Masa-aki KAWASHIRI, Wenxin YU, Yasuhiro TODO, Tsuyoshi NOZUE, Yoshihide UNO*, Senshu HIFUMI** and Hiroshi MABUCHI CASE REPORT From the Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine (The Second Department of Internal Medicine), Graduate School of Medical Science, Kanazawa University, Kanazawa and *the Department of Cardiology, Ishikawa Prefectural Central Hospital, Kanazawa and **the Department of Internal Medicine, Hokuriku Central Hospital, Oyabe Received for publication March 3, 2004; Accepted for publication August 28, 2004 Reprint requests should be addressed to Dr. Yoshihiro Noji, the Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8641 Patients and methods Case presentations Case 1 Case 1 was a 23-year-old female, with yellow-colored skin lesions since her early teens. Login to comment
50 One was a heterozygous missense mutation (c.3661C>T; p.R1221C) in exon 26 and the other was a heterozygous missense mutation (c.4096C>T; p.R1357W) in exon 29 of the ABCC6 gene. Login to comment
62 In the present study, two novel missense mutations, p.R1221C and p.R1357W, were found in a young female Internal Medicine Vol. 43, No. 12 (December 2004)1172 Internal Medicine Vol. 43, No. 12 (December 2004) Novel Mutations in the ABCC6 Gene in Japanese PXE Patients 1173 Figure 1. Login to comment
71 p.R1221C and p.R1357W are novel disease-causing mutations in the ABCC6 gene that have not been previously reported. Login to comment
73 p.R1357W was found in NBD2. Login to comment
75 We would expect a similar effect for the p.R1357W. Login to comment
88 (Family 1) In the family of the case 1, her mother was revealed to be heterozygous for p.R1357W. Login to comment
98 They did not examine the exons in which we identified as disease-causing mutations in our patients that include exon 19 [2542_2543delG], exon 26 [p.R1221C], and exon 29 [p.R1357W]. Login to comment

PMID: 16086317 [PubMed] Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."

No. Sentence Comment

295 Within the second NBF, R1357W in ABCC6 compares to R1392M in ABCC2. Login to comment

PMID: 21167005 [PubMed] Larusso J et al: "Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy."

No. Sentence Comment

62 Noji et al. also identified two novel missense mutations p.R1221C and p.R1357W in a Japanese patient with PXE. Login to comment

PMID: 16763870 [PubMed] Ladewig MS et al: "[Pseudoxanthoma elasticum]."

No. Sentence Comment

272 Internetadressen PXE-Selbsthilfegruppe Deutschland : http://www.pxe-groenblad.de PXE International: http://www.pxe.org Tabelle 5 PXE verursachende Mutationen imabcc6-Gen Klassifikation Lokalisation Gen Protein Missense Exon 9 Exon 9 Exon 10 Exon 10 Exon 11 Exon 12 Exon 13 Exon 14 Exon 16 Exon 18 Exon 18 Exon 18 Exon 18 Exon 19 Exon 19 Exon 19 Exon 22 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 24 Exon 25 Exon 26 Exon 26 Exon 26 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 28 Exon 29 Exon 29 Exon 29 Exon 29 Exon 29 Exon 30 Exon 30 Exon 30 c.1091CaG c.1171AaG c.1233TaG c.1318TaG c.1363GaC c.1553GaA c.1703TaC c.1798CaT c.2018TaC c.2252TaA c.2278CaT c.2294GaA c.2297CaA c.2428GaA c.2458GaC c.2552TaC c.2855TaG c.3340CaT c.3341GaA c.3341GaC c.3362CaG c.3380CaT c.3389CaT c.3412CaT c.3413GaA c.3413GaC c.3608GaA c.3661CaT c.3712GaC c.3715TaC c.3892GaT c.3902CaT c.3904GaA c.3907GaC c.3932GaA c.3940CaT c.3941GaA c.3961GaA c.3976GaA c.4004TaC c.4015CaT c.4036CaT c.4041GaC c.4060GaC c.4069CaT c.4081GaA c.4182GaT c.4198GaA c.4209CaA c.4271TaC c.4377CaT p.T364R p.R391G p.N411K p.C440G p.A455P p.R518Q p.F568S p.R600G p.L673P p.M751K p.R760W p.R765Q p.A766D p.V810M p.A820P p.L851P p.F952C p.R1114C p.R1114H p.R1114P p.S1121W p.M1127T p.T1130M p.R1138W p.R1138Q p.R1138P p.G1203D p.R1221C p.D1238H p.Y1239H p.V1298F p.T1301I p.G1302R p.A1303P p.G1311E p.R1314W p.R1314Q p.G1321S p.D1326N p.L1335P p.R1339C p.P1346S p.Q1347H p.G1354R p.R1357W p.D1361N p.K1394N p.E1400K p.S1403R p.I1424T p.R1459C Klassifikation Lokalisation Gen Protein Nonsense Exon 9 Exon 12 Exon 17 Exon 18 Exon 23 Exon 24 Exon 24 Exon 26 Exon 26 Exon 27 Exon 29 c.1132CaT c.1552CaT c.2247CaT c.2304CaA c.3088CaT c.3421CaT c.3490CaT c.3668GaA c.3709CaT c.3823CaT c.4192CaT p.Q378X p.R518X p.Q749X p.Y768X p.R1030X p.R1141X p.R1164X p.W1223X p.Q1237X p.R1275X p.R1398X Spleißstellen Intron 21 Intron 25 Intron 26 c.2787+1GaT c.3634-3CaA c.3736-1GaA Insertion Exon 8 Exon 25 Exon 30 c.938-939insT c.3544dupC c.4220insAGAA Deletion Exon 2 Exon 2 Exon 3 Exon 8 Exon 9 Exon 16 Exon 16 Exon 18 Exon 19 Exon 22 Exon 27 Exon 29 Exon 29 Exon 30 Exon 31 c.179del9 c.179-195del c.220-222del c.960delC c.1088-1120del c.1944del22 c.1995delG c.2322delC c.2542delG c.2835-2850del16 c.3775delT c.4101delC c.4182delG c.4318delA c.4434delA Intragenische Deletion Exon 15 Exon 18 Exon 23-29 delEx15 delEx18 delEx23-29 Intergenische Deletion ABCC6 delABCC6 Fazit für die Praxis Eine spezifische Behandlung der Grunderkrankung ist nicht bekannt. Login to comment