4.5 Article

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome

期刊

EUROPEAN JOURNAL OF HUMAN GENETICS
卷 21, 期 11, 页码 1316-1319

出版社

NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2013.45

关键词

LINE-1; non-allelic homologous recombination; Perlman syndrome; exon deletion

资金

  1. Grant for Research on Intractable Diseases from the Ministry of Health, Labor and Welfare
  2. Grant for Child Health and Development from the National Center for Child Health and Development
  3. Japan Society for the Promotion of Science
  4. Grants-in-Aid for Scientific Research [23659181] Funding Source: KAKEN

向作者/读者索取更多资源

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.

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