Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

ABSTRACT:

Background

Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene. Since standard DNA sequencing analysis fails to detect about 16% of GALNS mutant alleles, gross DNA rearrangement screening and uniparental disomy evaluation are required to complete the molecular diagnosis. Despite this, the second pathogenic GALNS allele generally remains unidentified in ~ 5% of Morquio-A disease patients.

Methods

In an attempt to bridge the residual gap between clinical and molecular diagnosis, we performed an mRNA-based evaluation of three Morquio-A disease patients in whom the second mutant GALNS allele had not been identi

SUBMITTER: Caciotti A 

PROVIDER: S-EPMC6180571 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature