Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation
2019
Herein, we describe two members of one family who presented with recurrent episodes of hepatic failure,
cerebellar ataxia, peripheral neuropathy, and
short stature. Liver transplantation was considered. Whole-
exome sequencing(Trio) revealed a synonymous variant in exon 4 of
SCYL1:c.459C>T p. (Gly153Gly), which did not appear to affect the protein sequence. Computational prediction analysis suggested that this modification could alter the
SCYL1mRNA splicing processing to create a premature termination codon. The
SCYL1mRNAs in our patient’s lymphocytes were analyzed and aberrant splicing was found. Molecular analysis of family members identified the parents as heterozygous recessive carriers and the proband as well as an affected
auntas homozygous. Evidently, harmless synonymous variants in the
SCYL1gene can damage
gene splicingand hence the expression. We confirmed that the pathogenicity of this variant in the
SCYL1gene was associated with
spinocerebellar ataxia, autosomal recessive 21 (SCAR21). Other reported cases (accept one) of liver failure found in the
SCYL1variants resolved during childhood, therefore orthotropic liver transplantation was no longer appropriate.
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