A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype

Yuji Oe; Eikan Mishima; Takayasu Mori; Koji Okamoto; Yohei Honkura; Tasuku Nagasawa; Mai Yoshida; Hiroshi Sato; Jun Suzuki; Ryoukichi Ikeda; Eisei Sohara; Shinichi Uchida; Yukio Katori; Mariko Miyazaki

doi:10.2169/internalmedicine.6987-20

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype

Yuji Oe, Eikan Mishima, Takayasu Mori, Koji Okamoto, Yohei Honkura, Tasuku Nagasawa, Mai Yoshida, Hiroshi Sato, Jun Suzuki, Ryoukichi Ikeda, Eisei Sohara, Shinichi Uchida, Yukio Katori, Mariko Miyazaki

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Abstract

A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a novel missense mutation in LMX1B, c.655C>G: p.(Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy.

Original language	English
Pages (from-to)	2991-2996
Number of pages	6
Journal	Internal Medicine
Volume	60
Issue number	18
DOIs	https://doi.org/10.2169/internalmedicine.6987-20
Publication status	Published - 2021

Keywords

Alport syndrome
Hereditary nephropathy
LMX1B
Nail-patella syndrome

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Oe, Y., Mishima, E., Mori, T., Okamoto, K., Honkura, Y., Nagasawa, T., Yoshida, M., Sato, H., Suzuki, J., Ikeda, R., Sohara, E., Uchida, S., Katori, Y., & Miyazaki, M. (2021). A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype. Internal Medicine, 60(18), 2991-2996. https://doi.org/10.2169/internalmedicine.6987-20

@article{8ee01dbdb5544cca96dab6e45ab45261,

title = "A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype",

abstract = "A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a novel missense mutation in LMX1B, c.655C>G: p.(Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy.",

keywords = "Alport syndrome, Hereditary nephropathy, LMX1B, Nail-patella syndrome",

author = "Yuji Oe and Eikan Mishima and Takayasu Mori and Koji Okamoto and Yohei Honkura and Tasuku Nagasawa and Mai Yoshida and Hiroshi Sato and Jun Suzuki and Ryoukichi Ikeda and Eisei Sohara and Shinichi Uchida and Yukio Katori and Mariko Miyazaki",

note = "Funding Information: We thank Kiyomi Kisu, Tohoku University, for her technical assistance. Publisher Copyright: {\textcopyright} 2021 The Japanese Society of Internal Medicine.",

year = "2021",

doi = "10.2169/internalmedicine.6987-20",

language = "English",

volume = "60",

pages = "2991--2996",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

number = "18",

}

Oe, Y, Mishima, E, Mori, T, Okamoto, K , Honkura, Y , Nagasawa, T , Yoshida, M, Sato, H, Suzuki, J, Ikeda, R, Sohara, E, Uchida, S, Katori, Y & Miyazaki, M 2021, 'A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype', Internal Medicine, vol. 60, no. 18, pp. 2991-2996. https://doi.org/10.2169/internalmedicine.6987-20

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T1 - A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype

AU - Oe, Yuji

AU - Mishima, Eikan

AU - Mori, Takayasu

AU - Okamoto, Koji

AU - Honkura, Yohei

AU - Nagasawa, Tasuku

AU - Yoshida, Mai

AU - Sato, Hiroshi

AU - Suzuki, Jun

AU - Ikeda, Ryoukichi

AU - Sohara, Eisei

AU - Uchida, Shinichi

AU - Katori, Yukio

AU - Miyazaki, Mariko

PY - 2021

Y1 - 2021

N2 - A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a novel missense mutation in LMX1B, c.655C>G: p.(Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy.

AB - A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a novel missense mutation in LMX1B, c.655C>G: p.(Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy.

KW - Alport syndrome

KW - Hereditary nephropathy

KW - LMX1B

KW - Nail-patella syndrome

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ER -

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype

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Keywords

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