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We found two novel missense variants in exon 26 and 29 in a compound heterozygous state in the first patient. 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.
Aug 28, 2023 · (c.3661C>T; p.R1221C) in exon 26 and the other was a het-erozygous missense mutation (c.4096C>T; p.R1357W) in exon 29 of the ABCC6 gene. The c.3661C>T mutation pre-dicted the creation of a novel recognition site for TspE I and the loss of a Taq I restriction site. The variant c.4096C>T in exon 29 results in the gain of a novel Mae II restriction
Therefore, we considered these two variants to be diseasecausing. p.R1221C and p.R1357W are novel disease-causing mutations in the ABCC6 gene that have not been previously reported. p.R1221C is located between the 17th transmembrane helix and NBD2. p.R1357W was found in NBD2.
- Dr. Munira Borhany
Mar 20, 2007 · A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene.
- Beata Kieć-Wilk, Andrzej Surdacki, Aldona Dembińska-Kieć, Joanna Michalowska, Maria Stachura-Dereń, ...
- 2007
Dec 1, 2004 · Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
Dec 1, 2004 · Identification of Two Novel Missense Mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) Gene in a Japanese Patient with Pseudoxanthoma Elasticum (PXE) December 2004 Internal Medicine...
from publication: Identification of Two Novel Missense Mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) Gene in a Japanese Patient with Pseudoxanthoma Elasticum (PXE) | Pseudoxanthoma ...
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+In+the+family+of+the+...&oid=4&h=595&w=427&turl=https%3A%2F%2Ftse1.mm.bing.net%2Fth%3Fid%3DOIP.5YljGZzq-vqkdkMB_WCCvAAAAA%26pid%3DApi&tt=Pedigrees+of+two+patients+with+PXE.+(Family+1)+In+the+family+of+the+...&sigr=kkjJjcq5OumN&sigit=2RA5NEL2o33E&sigi=hwa135vQ5Eh9&sign=1ScLTmpevBHA&sigt=1ScLTmpevBHA "Pedigrees of two patients with PXE. (Family 1) In the family of the ...")
