Pyridoxine responsiveness in novel mutations of the PNPO gene.

ABSTRACT:

Objective

To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations.

Methods

We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria.

Results

We were able to identify 11 patients carrying 3 novel mutations of the PNPO gene. In 6 families, a homozygous missense mutation p.Arg225His in exon 7 was identified, while 1 family was compound heterozygous for a novel missense mutation p.Arg141Cys in exon 5 and a deletion c.279_290del in exon 3. Pathogenicity of the respective mutations was proven by absence in 100 control alleles and expression studies in CHO-K1 cell lines. The response to pyridoxine was prompt in 4, delayed in

SUBMITTER: Plecko B 

PROVIDER: S-EPMC4001193 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature