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

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.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas...

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Published inHuman genome variation Vol. 1; no. 1; p. 14006
Main Authors 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
Format Journal Article
LanguageEnglish
Published England Springer Nature B.V 2014
Nature Publishing Group
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Summary: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.3266G>A) 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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ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2014.6