Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

doi:10.1681/ASN.2018030228

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Article

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Aug 2018

Horinouchi Tomoko, Nozu Kandai, Yamamura Tomohiko, Minamikawa Shogo, Omori Takashi, Nakanishi Keita, Fujimura Junya, Ashida Akira, Kitamura Mineaki, Kawano Mitsuhiro, Shimabukuro Wataru, Kitabayashi Chizuko, Imafuku Aya, Tamagaki Keiichi, Kamei Koichi, Okamoto Kenjirou, Fujinaga Shuichiro, Oka Masafumi, Igarashi Toru, Miyazono Akinori, Sawanobori Emi, Fujimaru Rika, Nakanishi Koichi, Shima Yuko, Matsuo Masafumi, Ye Ming Juan, Nozu Yoshimi, Morisada Naoya, Kaito Hiroshi, Iijima Kazumoto

Abstract excerpt

BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation in male XLAS is relatively well established; relative to truncating mutations, nontruncating mutations exhibit milder phenotypes. However, transcript comparison between XLAS cases with splicing abnormalities that result in a premature stop codon and those with...

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PMID: 29959198
DOI: 10.1681/ASN.2018030228
PMCID: PMC6065097

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