Non-allelic homologous recombination leading to premature transcription
termination in the ARSB gene as a novel cause of Mucopolysaccharidosis
type VI
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.