A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

Xue J. Fu; Naoya Morisada; Fusako Hashimoto; Mariko Taniguchi-Ikeda; Yuya Hashimura; Hiromi Ohtsubo; Takeshi Ninchoji; Hiroshi Kaito; Kandai Nozu; Eihiko Takahashi; Koichi Nakanishi; Hiroki Kurahashi; Kazumoto Iijima

doi:10.1038/hgv.2014.6

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

Xue J. Fu, Naoya Morisada, Fusako Hashimoto, Mariko Taniguchi-Ikeda, Yuya Hashimura, Hiromi Ohtsubo, Takeshi Ninchoji, Hiroshi Kaito, Kandai Nozu, Eihiko Takahashi, Koichi Nakanishi, Hiroki Kurahashi, Kazumoto Iijima

Division of Molecular Genetics

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

4 Citations (Scopus)

Abstract

We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G4A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy.

Original language	English
Article number	14006
Journal	Human Genome Variation
Volume	1
DOIs	https://doi.org/10.1038/hgv.2014.6
Publication status	Published - 2014

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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title = "A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy",

abstract = "We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G4A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy.",

author = "Fu, {Xue J.} and Naoya Morisada and Fusako Hashimoto and Mariko Taniguchi-Ikeda and Yuya Hashimura and Hiromi Ohtsubo and Takeshi Ninchoji and Hiroshi Kaito and Kandai Nozu and Eihiko Takahashi and Koichi Nakanishi and Hiroki Kurahashi and Kazumoto Iijima",

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T1 - A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

AU - Fu, Xue J.

AU - Morisada, Naoya

AU - Hashimoto, Fusako

AU - Taniguchi-Ikeda, Mariko

AU - Hashimura, Yuya

AU - Ohtsubo, Hiromi

AU - Ninchoji, Takeshi

AU - Kaito, Hiroshi

AU - Nozu, Kandai

AU - Takahashi, Eihiko

AU - Nakanishi, Koichi

AU - Kurahashi, Hiroki

AU - Iijima, Kazumoto

PY - 2014

Y1 - 2014

N2 - We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G4A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy.

AB - We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G4A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy.

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DO - 10.1038/hgv.2014.6

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JO - Human Genome Variation

JF - Human Genome Variation

M1 - 14006

ER -

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

Abstract

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