title: Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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.
authors.affiliation: Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Higashimoto
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Maeda
authors.forename: Junichiro
authors.initials: J
authors.lastname: Okada
authors.forename: Yasufumi
authors.initials: Y
authors.lastname: Ohtsuka
authors.forename: Kensaku
authors.initials: K
authors.lastname: Sasaki
authors.forename: Akiko
authors.initials: A
authors.lastname: Hirose
authors.forename: Makoto
authors.initials: M
authors.lastname: Nomiyama
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Takayanagi
authors.forename: Ryuji
authors.initials: R
authors.lastname: Fukuzawa
authors.forename: Hitomi
authors.initials: H
authors.lastname: Yatsuki
authors.forename: Kayoko
authors.initials: K
authors.lastname: Koide
authors.forename: Kenichi
authors.initials: K
authors.lastname: Nishioka
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Joh
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Hidenobu
authors.initials: H
authors.lastname: Soejima
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D005095:Exoribonucleases / Q000235:genetics*; D017809:Fatal Outcome; D005320:Fetal Macrosomia / Q000235:genetics*; D059765:Homologous Recombination / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020084:Long Interspersed Nucleotide Elements / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: C571454:DIS3L2 protein, human; D005095:Exoribonucleases