Homozygous mutations of GLUT9 cause severe renal hypouricemia

Dganit Dinour; Nicola K. Gray; Susan Campbell; Xinhua Shu; Lindsay Sawyer; William Richardson; Gideon Rechavi; Ninette Amariglio

doi:10.1681/ASN.2009040406

Homozygous mutations of GLUT9 cause severe renal hypouricemia

Dganit Dinour, Nicola K. Gray, Susan Campbell, Xinhua Shu, Lindsay Sawyer, William Richardson, Gideon Rechavi, Ninette Amariglio

Biological and Biomedical Sciences

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

200 Citations (Scopus)

Abstract

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter 9 (GLUT9).

Original language	English
Pages (from-to)	64-72
Number of pages	9
Journal	Journal of the American Society of Nephrology
Volume	21
Issue number	1
DOIs	https://doi.org/10.1681/ASN.2009040406
Publication status	Published - 1 Jan 2010

Keywords

genetics
renal hypouricemia
enal tubular uric acid transporter

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10.1681/ASN.2009040406

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title = "Homozygous mutations of GLUT9 cause severe renal hypouricemia",

abstract = "Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter 9 (GLUT9).",

keywords = "genetics, renal hypouricemia, enal tubular uric acid transporter",

author = "Dganit Dinour and Gray, {Nicola K.} and Susan Campbell and Xinhua Shu and Lindsay Sawyer and William Richardson and Gideon Rechavi and Ninette Amariglio",

note = "Originally published in: Journal of the American Society of Nephrology (2010), 21 (1), pp.64-72.",

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T1 - Homozygous mutations of GLUT9 cause severe renal hypouricemia

AU - Dinour, Dganit

AU - Gray, Nicola K.

AU - Campbell, Susan

AU - Shu, Xinhua

AU - Sawyer, Lindsay

AU - Richardson, William

AU - Rechavi, Gideon

AU - Amariglio, Ninette

N1 - Originally published in: Journal of the American Society of Nephrology (2010), 21 (1), pp.64-72.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter 9 (GLUT9).

AB - Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter 9 (GLUT9).

KW - genetics

KW - renal hypouricemia

KW - enal tubular uric acid transporter

U2 - 10.1681/ASN.2009040406

DO - 10.1681/ASN.2009040406

M3 - Article

SN - 1533-3450

VL - 21

SP - 64

EP - 72

JO - Journal of the American Society of Nephrology

JF - Journal of the American Society of Nephrology

IS - 1

ER -

Homozygous mutations of GLUT9 cause severe renal hypouricemia

Abstract

Keywords

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