A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.
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ABSTRACT:
SUBMITTER: Fu XJ
PROVIDER: S-EPMC4785521 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.
Fu Xue J XJ Morisada Naoya N Hashimoto Fusako F Taniguchi-Ikeda Mariko M Hashimura Yuya Y Ohtsubo Hiromi H Ninchoji Takeshi T Kaito Hiroshi H Nozu Kandai K Takahashi Eihiko E Nakanishi Koichi K Kurahashi Hiroki H Iijima Kazumoto K
Human genome variation 20140807
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. ...[more]
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