A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report

Naonori Kumagai; Yuji Matsumoto; Tomomi Kondoh; Yohei Ikezumi

doi:10.1038/s41439-022-00209-6

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

抄録

Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.

本文言語	英語
論文番号	30
ジャーナル	Human Genome Variation
巻	9
号	1
DOI	https://doi.org/10.1038/s41439-022-00209-6
出版ステータス	出版済み - 12-2022

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

文献へのアクセス

10.1038/s41439-022-00209-6

他のファイルとリンク

引用スタイル

@article{9e39d1f72dbf451fb14e2c1b27fb58b6,

title = "A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report",

abstract = "Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM\_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.",

author = "Naonori Kumagai and Yuji Matsumoto and Tomomi Kondoh and Yohei Ikezumi",

note = "Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = dec,

doi = "10.1038/s41439-022-00209-6",

language = "English",

volume = "9",

journal = "Human Genome Variation",

issn = "2054-345X",

publisher = "Springer Nature",

number = "1",

}

TY - JOUR

T1 - A novel COL4A5 splicing variant causing X-linked Alport syndrome

T2 - A case report

AU - Kumagai, Naonori

AU - Matsumoto, Yuji

AU - Kondoh, Tomomi

AU - Ikezumi, Yohei

PY - 2022/12

Y1 - 2022/12

N2 - Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.

AB - Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.

UR - https://www.scopus.com/pages/publications/85137718106

UR - https://www.scopus.com/pages/publications/85137718106#tab=citedBy

U2 - 10.1038/s41439-022-00209-6

DO - 10.1038/s41439-022-00209-6

M3 - Article

AN - SCOPUS:85137718106

SN - 2054-345X

VL - 9

JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

M1 - 30

ER -

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report

抄録

All Science Journal Classification (ASJC) codes

文献へのアクセス

他のファイルとリンク

フィンガープリント

引用スタイル