Does NPHS1 polymorphism modulate P118L mutation in NPHS2?
Joint Authors
Bulut, Ipek Kaplan
Dincel, Nida
Berdeli, Afig
Sozeri, Betul
Mir, Sivgi
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 24, Issue 6 (31 Dec. 2013), pp.1210-1213, 4 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2013-12-31
Country of Publication
Saudi Arabia
No. of Pages
4
Main Subjects
Topics
Abstract EN
Nephrotic syndrome (NS) in the first year of life is uncommon and makes up a heterogeneous group of disorders.
Subsequent studies have further defined the phenotype associated with mutations in the NPHS2 gene, revealing that patients usually develop NS from birth to 6 years of age.
We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L).
Our patient was carrying a polymorphic NPHS1 mutation, while phenotypically she had a poor prognostic NPHS2 mutation.
However, it must be questioned whether this polymorphic change (E117K) alters the signaling pathways of the oocytes and leads to P118L mutation, thus making it behave differently.
Perhaps, this would be called a genetic modifier in future.
American Psychological Association (APA)
Dincel, Nida& Mir, Sivgi& Berdeli, Afig& Bulut, Ipek Kaplan& Sozeri, Betul. 2013. Does NPHS1 polymorphism modulate P118L mutation in NPHS2?. Saudi Journal of Kidney Diseases and Transplantation،Vol. 24, no. 6, pp.1210-1213.
https://search.emarefa.net/detail/BIM-342674
Modern Language Association (MLA)
Dincel, Nida…[et al.]. Does NPHS1 polymorphism modulate P118L mutation in NPHS2?. Saudi Journal of Kidney Diseases and Transplantation Vol. 24, no. 6 (2013), pp.1210-1213.
https://search.emarefa.net/detail/BIM-342674
American Medical Association (AMA)
Dincel, Nida& Mir, Sivgi& Berdeli, Afig& Bulut, Ipek Kaplan& Sozeri, Betul. Does NPHS1 polymorphism modulate P118L mutation in NPHS2?. Saudi Journal of Kidney Diseases and Transplantation. 2013. Vol. 24, no. 6, pp.1210-1213.
https://search.emarefa.net/detail/BIM-342674
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 1213
Record ID
BIM-342674