Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Tomoko Uehara; Mamiko Yamada; Shuichiro Umetsu; Hiroshi Nittono; Hisato Suzuki; Tomoo Fujisawa; Toshiki Takenouchi; Ayano Inui; Kenjiro Kosaki

doi:10.1016/j.jpeds.2020.01.064

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Tomoko Uehara, Mamiko Yamada, Shuichiro Umetsu, Hiroshi Nittono, Hisato Suzuki, Tomoo Fujisawa, Toshiki Takenouchi, Ayano Inui, Kenjiro Kosaki

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

3 Citations (Scopus)

Abstract

We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.

Original language	English
Pages (from-to)	251-254
Number of pages	4
Journal	Journal of Pediatrics
Volume	221
DOIs	https://doi.org/10.1016/j.jpeds.2020.01.064
Publication status	Published - 2020 Jun

Keywords

LSR
exome sequencing
infantile intrahepatic cholestasis
tricelluar tight junction

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis. / Uehara, Tomoko; Yamada, Mamiko; Umetsu, Shuichiro; Nittono, Hiroshi; Suzuki, Hisato; Fujisawa, Tomoo; Takenouchi, Toshiki; Inui, Ayano; Kosaki, Kenjiro.

In: Journal of Pediatrics, Vol. 221, 06.2020, p. 251-254.

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

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title = "Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis",

abstract = "We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.",

keywords = "LSR, exome sequencing, infantile intrahepatic cholestasis, tricelluar tight junction",

author = "Tomoko Uehara and Mamiko Yamada and Shuichiro Umetsu and Hiroshi Nittono and Hisato Suzuki and Tomoo Fujisawa and Toshiki Takenouchi and Ayano Inui and Kenjiro Kosaki",

note = "Funding Information: Supported by the Japan Agency for Medical Research and Development (JP18ek0109301, to K.K.), Keio University Academic Development Funds for Individual Research (to M.Y.), and Japan Society for the Promotion of Science (KAKENHI Grant in-Aid for Early-Career Scientists JP19K17342, to M.Y.). The authors declare no conflicts of interest.",

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AU - Uehara, Tomoko

AU - Yamada, Mamiko

AU - Umetsu, Shuichiro

AU - Nittono, Hiroshi

AU - Suzuki, Hisato

AU - Fujisawa, Tomoo

AU - Takenouchi, Toshiki

AU - Inui, Ayano

AU - Kosaki, Kenjiro

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PY - 2020/6

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N2 - We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.

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KW - tricelluar tight junction

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