Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 21, Issue 11, Pages 1316-1319Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2013.45
Keywords
LINE-1; non-allelic homologous recombination; Perlman syndrome; exon deletion
Funding
- Grant for Research on Intractable Diseases from the Ministry of Health, Labor and Welfare
- Grant for Child Health and Development from the National Center for Child Health and Development
- Japan Society for the Promotion of Science
- Grants-in-Aid for Scientific Research [23659181] Funding Source: KAKEN
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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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