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- Title
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
- Authors
Higashimoto, Ken; Maeda, Toshiyuki; Okada, Junichiro; Ohtsuka, Yasufumi; Sasaki, Kensaku; Hirose, Akiko; Nomiyama, Makoto; Takayanagi, Toshimitsu; Fukuzawa, Ryuji; Yatsuki, Hitomi; Koide, Kayoko; Nishioka, Kenichi; Joh, Keiichiro; Watanabe, Yoriko; Yoshiura, Koh-ichiro; Soejima, Hidenobu
- Abstract
Perlman syndrome is a rare, autosomal recessive overgrowth disorder. Recently, the deletion of exon 9 and other mutations of the DIS3L2 gene have been reported in patients; however, the mechanism behind this deletion is still unknown. We report the homozygous deletion of exon 9 of DIS3L2 in a Japanese patient with Perlman syndrome. We identified the deletion junction, and implicate a non-allelic homologous recombination (NAHR) between two LINE-1 (L1) elements as the causative mechanism. Furthermore, the deletion junctions were different between the paternal and maternal mutant alleles, suggesting the occurrence of two independent NAHR events in the ancestors of each parent. The data suggest that the region around exon 9 might be a hot spot of L1-mediated NAHR.
- Subjects
DELETION mutation; EXONS (Genetics); CHROMOSOME abnormalities; ALLELES; BIOCHEMICAL mechanism of action; GENETICS
- Publication
European Journal of Human Genetics, 2013, Vol 21, Issue 11, p1316
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2013.45