Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.

ABSTRACT:

Background & objectives

Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1). We describe here the mutation analysis of a case of MSD.

Methods

The proband was a four year old boy with developmental delay followed by neuroregression. He had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs. Radiographs showed dysostosis multiplex. Clinical suspicion of MSD was confirmed by enzyme analysis of four enzymes of the sulphatase group.

Results

The patient was compound heterozygote for a c.451A>G (p.K1

SUBMITTER: Kotecha UH 

PROVIDER: S-EPMC4181161 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature