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

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

5 被引用数 (Scopus)

抄録

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.

本文言語	英語
論文番号	14006
ジャーナル	Human Genome Variation
巻	1
DOI	https://doi.org/10.1038/hgv.2014.6
出版ステータス	出版済み - 2014

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

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10.1038/hgv.2014.6

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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",

year = "2014",

doi = "10.1038/hgv.2014.6",

language = "English",

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journal = "Human Genome Variation",

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TY - JOUR

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.

UR - https://www.scopus.com/pages/publications/85057801283

UR - https://www.scopus.com/pages/publications/85057801283#tab=citedBy

U2 - 10.1038/hgv.2014.6

DO - 10.1038/hgv.2014.6

M3 - Article

AN - SCOPUS:85057801283

SN - 2054-345X

VL - 1

JO - Human Genome Variation

JF - Human Genome Variation

M1 - 14006

ER -

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

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