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

Pediatrics

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

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.

Original language	English
Article number	30
Journal	Human Genome Variation
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41439-022-00209-6
Publication status	Published - 12-2022

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/s41439-022-00209-6

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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.",

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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.

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

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