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 journalArticlepeer-review

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

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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