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

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

Research output: Contribution to journalArticle

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
  • Genetics
  • Molecular Biology

Cite this

Fu, X. J., Morisada, N., Hashimoto, F., Ikeda, M., Hashimura, Y., Ohtsubo, H., ... Iijima, K. (2014). A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. Human Genome Variation, 1, [14006]. https://doi.org/10.1038/hgv.2014.6
Fu, Xue J. ; Morisada, Naoya ; Hashimoto, Fusako ; 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, 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; 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 - 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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