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

Research output: Contribution to journalArticle

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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 languageEnglish
Article number14006
JournalHuman Genome Variation
Volume1
DOIs
Publication statusPublished - 01-01-2014

Fingerprint

Hereditary Nephritis
Genes
Mothers
Mutation
Comparative Genomic Hybridization
Microarray Analysis
Microarrays
Polymorphism
Fathers
Single Nucleotide Polymorphism
Nucleotides
Alleles

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

Fu, Xue J. ; Morisada, Naoya ; Hashimoto, Fusako ; Taniguchi-Ikeda, Mariko ; Hashimura, Yuya ; Ohtsubo, Hiromi ; Ninchoji, Takeshi ; Kaito, Hiroshi ; Nozu, Kandai ; Takahashi, Eihiko ; Nakanishi, Koichi ; Kurahashi, Hiroki ; Iijima, Kazumoto. / A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. In: Human Genome Variation. 2014 ; Vol. 1.
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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.",
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Fu, XJ, Morisada, N, Hashimoto, F, Taniguchi-Ikeda, M, Hashimura, Y, Ohtsubo, H, Ninchoji, T, Kaito, H, Nozu, K, Takahashi, E, Nakanishi, K, Kurahashi, H & Iijima, K 2014, 'A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy', Human Genome Variation, vol. 1, 14006. https://doi.org/10.1038/hgv.2014.6

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. / Fu, Xue J.; Morisada, Naoya; Hashimoto, Fusako; Taniguchi-Ikeda, Mariko; Hashimura, Yuya; Ohtsubo, Hiromi; Ninchoji, Takeshi; Kaito, Hiroshi; Nozu, Kandai; Takahashi, Eihiko; Nakanishi, Koichi; Kurahashi, Hiroki; Iijima, Kazumoto.

In: Human Genome Variation, Vol. 1, 14006, 01.01.2014.

Research output: Contribution to journalArticle

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 - 2014/1/1

Y1 - 2014/1/1

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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