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Article

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.

Internal medicine (Tokyo, Japan) - 1 Jan 2000

Abe Yoshifusa, Iyoda Masayuki, Nozu Kandai, Hibino Satoshi, Hihara Kei, Yamaguchi Yutaka, Yamamura Tomohiko, Minamikawa Shogo, Iijima Kazumoto, Shibata Takanori, Itabashi Kazuo

Abstract excerpt

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation...

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Identifiers

PMID: 27725546
DOI: 10.2169/internalmedicine.55.6873
PMCID: PMC5088547

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