Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy
MYH9-related disease or disorder (MYH9-RD) is an autosomal dominant disease caused by mutations in the MYH9 gene. Mutations in this gene initially affect the hemic system, and other manifestations may evolve with age. Here, we report the case of a 46-year-old Chinese woman with MYH9-RD who was prima...
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doaj-f913b0459ecb4a14af7e24f226d1ab9c2021-07-28T09:56:08ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-07-011210.3389/fgene.2021.705832705832Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and NephropathyPingping Ren0Pingping Ren1Pingping Ren2Hongjun Chen3Hongjun Chen4Hongjun Chen5Yucheng Wang6Yucheng Wang7Yucheng Wang8Cuili Wang9Cuili Wang10Cuili Wang11Shi Feng12Shi Feng13Shi Feng14Hong Jiang15Hong Jiang16Hong Jiang17Jianghua Chen18Jianghua Chen19Jianghua Chen20Kidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaKidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaKidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaKidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaKidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaKidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaKidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Nephropathy, Hangzhou, ChinaInstitute of Nephropathy, Zhejiang University, Hangzhou, ChinaMYH9-related disease or disorder (MYH9-RD) is an autosomal dominant disease caused by mutations in the MYH9 gene. Mutations in this gene initially affect the hemic system, and other manifestations may evolve with age. Here, we report the case of a 46-year-old Chinese woman with MYH9-RD who was primarily misdiagnosed with idiopathic thrombocytopenia purpura. Exome sequencing of the patient, and the mother and son of the patient revealed a deletion mutation c.5797delC (p. R1933Efs*15) in exon 41 (encoding non-helical tailpiece, NHT) of the MYH9 gene, which consequently led to a frameshift mutation. To the best of our knowledge, this mutation has been reported in Italy once, while the substitution mutation c.5797 C>T is the most frequent mutation. Mutations that affect the NHT region cause thrombocytopenia throughout life; however, our patient presented with a more severe phenotype than previously reported, including thrombocytopenia, inclusion bodies in neutrophils, sensorineural hearing loss, nephropathy, and abnormal liver enzymes. Our goal in the current case is to prevent further progression of renal involvement and to identify other affected members in this family to provide early intervention. This case may raise awareness of MYH9-RD when diagnosing thrombocytopenia and improve our understanding of this condition.https://www.frontiersin.org/articles/10.3389/fgene.2021.705832/fullMYH9-related diseaseexon mutationnephropathythrombocytopeniaautosomal dominant disease |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Pingping Ren Pingping Ren Pingping Ren Hongjun Chen Hongjun Chen Hongjun Chen Yucheng Wang Yucheng Wang Yucheng Wang Cuili Wang Cuili Wang Cuili Wang Shi Feng Shi Feng Shi Feng Hong Jiang Hong Jiang Hong Jiang Jianghua Chen Jianghua Chen Jianghua Chen |
spellingShingle |
Pingping Ren Pingping Ren Pingping Ren Hongjun Chen Hongjun Chen Hongjun Chen Yucheng Wang Yucheng Wang Yucheng Wang Cuili Wang Cuili Wang Cuili Wang Shi Feng Shi Feng Shi Feng Hong Jiang Hong Jiang Hong Jiang Jianghua Chen Jianghua Chen Jianghua Chen Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy Frontiers in Genetics MYH9-related disease exon mutation nephropathy thrombocytopenia autosomal dominant disease |
author_facet |
Pingping Ren Pingping Ren Pingping Ren Hongjun Chen Hongjun Chen Hongjun Chen Yucheng Wang Yucheng Wang Yucheng Wang Cuili Wang Cuili Wang Cuili Wang Shi Feng Shi Feng Shi Feng Hong Jiang Hong Jiang Hong Jiang Jianghua Chen Jianghua Chen Jianghua Chen |
author_sort |
Pingping Ren |
title |
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy |
title_short |
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy |
title_full |
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy |
title_fullStr |
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy |
title_full_unstemmed |
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy |
title_sort |
case report: pathogenic myh9 c.5797delc mutation in a patient with apparent thrombocytopenia and nephropathy |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Genetics |
issn |
1664-8021 |
publishDate |
2021-07-01 |
description |
MYH9-related disease or disorder (MYH9-RD) is an autosomal dominant disease caused by mutations in the MYH9 gene. Mutations in this gene initially affect the hemic system, and other manifestations may evolve with age. Here, we report the case of a 46-year-old Chinese woman with MYH9-RD who was primarily misdiagnosed with idiopathic thrombocytopenia purpura. Exome sequencing of the patient, and the mother and son of the patient revealed a deletion mutation c.5797delC (p. R1933Efs*15) in exon 41 (encoding non-helical tailpiece, NHT) of the MYH9 gene, which consequently led to a frameshift mutation. To the best of our knowledge, this mutation has been reported in Italy once, while the substitution mutation c.5797 C>T is the most frequent mutation. Mutations that affect the NHT region cause thrombocytopenia throughout life; however, our patient presented with a more severe phenotype than previously reported, including thrombocytopenia, inclusion bodies in neutrophils, sensorineural hearing loss, nephropathy, and abnormal liver enzymes. Our goal in the current case is to prevent further progression of renal involvement and to identify other affected members in this family to provide early intervention. This case may raise awareness of MYH9-RD when diagnosing thrombocytopenia and improve our understanding of this condition. |
topic |
MYH9-related disease exon mutation nephropathy thrombocytopenia autosomal dominant disease |
url |
https://www.frontiersin.org/articles/10.3389/fgene.2021.705832/full |
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