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Non-allelic homologous recombination leading to premature transcription termination in the ARSB gene as a novel cause of Mucopolysaccharidosis type VI
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  • Igor Bychkov,
  • Alexandra Filatova,
  • Galina Baydakova,
  • Nataliya Sikora,
  • Alexandr Skretnev,
  • Vyacheslav Tabakov,
  • Mikhail Skoblov,
  • Ekaterina Zakharova
Igor Bychkov
Research Centre for Medical Genetics Moscow Russia

Corresponding Author:bychkov@med-gen.ru

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Alexandra Filatova
Research Centre for Medical Genetics Moscow Russia
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Galina Baydakova
Research Centre for Medical Genetics Moscow Russia
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Nataliya Sikora
MZHK KGBUZ "Perinatal Center" named after Professor GS Postol Khabarovsk Russia
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Alexandr Skretnev
MZHK KGBUZ "Children's Regional Clinical Hospital" named after AK Piotrovich Khabarovsk Russia
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Vyacheslav Tabakov
Research Centre for Medical Genetics Moscow Russia
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Mikhail Skoblov
Research Centre for Medical Genetics Moscow Russia
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Ekaterina Zakharova
Research Centre for Medical Genetics Moscow Russia
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Abstract

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder associated with pathogenic variants in the ARSB gene. Herein, we present a novel type of ARSB mutations, which is an insertion of the LHFPL2 gene fragment derived from unequal non-allelic homologous recombination between these two genes. The 52 kb insertion, containing the LHPL2 exon 3, was identified in reverse complement orientation deep in the intron 4 of ARSB using whole genome sequencing. Subsequent RNA analysis determined its deleterious effect, which is premature transcription termination. Two mobile genetic elements of the L1 class with high sequence similarity were identified in both genes at the site of recombination and their close spatial proximity is suggested to favor structural rearrangements in this locus. The recombination was identified in compound heterozygous state with the nonsense variant c.966G>A (p.Trp322*) in patient with an early-onset form of MPS VI. Almost complete absence of the full-length ARSB mRNA isoform expression from both alleles correlates well with a severe phenotype of the patient. The results of our study expand mutational spectrum of the ARSB gene towards complex structural variants and novel molecular-genetic mechanisms.