Renal transplantation in a patient with MHY9-related disease; a case report

Sepideh Zununi Vahed; Bahram Niknafs; Hamid Noshad; Ramin Tolouian; Mohammadali Mohajel Shoja; Audrey Tolouian; Mohammadreza Ardalan

doi:10.34172/jnp.2022.15980

Renal transplantation in a patient with MHY9-related disease; a case report

Sepideh Zununi Vahed
, Bahram Niknafs
, Hamid Noshad
, Ramin Tolouian
, Mohammadali Mohajel Shoja
, Audrey Tolouian
, Mohammadreza Ardalan

Research output: Contribution to journal › Article › peer-review

Abstract

MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient.

Original language	English
Article number	e15980
Journal	Journal of Nephropathology
Volume	12
Issue number	1
DOIs	https://doi.org/10.34172/jnp.2022.15980
State	Published - Jan 2023
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2023 The Author(s); Published by Society of Diabetic Nephropathy Prevention..

ASJC Scopus Subject Areas

Nephrology

Keywords

End-stage renal disease
Gene sequencing
Large platelets
Mutations
MYH9-related disease
non-muscle myosin IIA
Renal transplant
thrombocytopenia

Access to Document

10.34172/jnp.2022.15980

Cite this

@article{7071c6b70c1b480c90b8c4afb113a10b,

title = "Renal transplantation in a patient with MHY9-related disease; a case report",

abstract = "MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient.",

keywords = "End-stage renal disease, Gene sequencing, Large platelets, Mutations, MYH9-related disease, non-muscle myosin IIA, Renal transplant, thrombocytopenia",

author = "Vahed, \{Sepideh Zununi\} and Bahram Niknafs and Hamid Noshad and Ramin Tolouian and Shoja, \{Mohammadali Mohajel\} and Audrey Tolouian and Mohammadreza Ardalan",

note = "Publisher Copyright: {\textcopyright} 2023 The Author(s); Published by Society of Diabetic Nephropathy Prevention..",

year = "2023",

month = jan,

doi = "10.34172/jnp.2022.15980",

language = "English",

volume = "12",

journal = "Journal of Nephropathology",

issn = "2251-8363",

number = "1",

}

TY - JOUR

T1 - Renal transplantation in a patient with MHY9-related disease; a case report

AU - Vahed, Sepideh Zununi

AU - Niknafs, Bahram

AU - Noshad, Hamid

AU - Tolouian, Ramin

AU - Shoja, Mohammadali Mohajel

AU - Tolouian, Audrey

AU - Ardalan, Mohammadreza

PY - 2023/1

Y1 - 2023/1

N2 - MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient.

AB - MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient.

KW - End-stage renal disease

KW - Gene sequencing

KW - Large platelets

KW - Mutations

KW - MYH9-related disease

KW - non-muscle myosin IIA

KW - Renal transplant

KW - thrombocytopenia

UR - https://www.scopus.com/pages/publications/85149234751

UR - https://www.scopus.com/pages/publications/85149234751#tab=citedBy

U2 - 10.34172/jnp.2022.15980

DO - 10.34172/jnp.2022.15980

M3 - Article

AN - SCOPUS:85149234751

SN - 2251-8363

VL - 12

JO - Journal of Nephropathology

JF - Journal of Nephropathology

IS - 1

M1 - e15980

ER -

Renal transplantation in a patient with MHY9-related disease; a case report

Abstract

Bibliographical note

ASJC Scopus Subject Areas

Keywords

Access to Document

Other files and links

Fingerprint

Cite this