Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association of PEX10 gene and 1p36 copy number variations in 1p36 region with concurrent epilepsy through analyzing 3 cases.</p><p><b>METHODS</b>The karyotypes of 3 patients were determined by high resolution chromosome banding, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) combined with single nucleotide polymorphism array (SNP) technology. Real-time PCR was carried out to determine the mRNA levels of PEX10 gene in peripheral blood of the patients.</p><p><b>RESULTS</b>No abnormality was found upon high resolution karyotyping. MLPA analysis showed that all of the 3 patients had a copy number variation of subtelomeric region in the short arm of chromosome 1, which was confirmed by FISH and SNP chip analyses. Case 1 and case 2 both had an epilepsy phenotype, and their copy number variations have encompassed the PEX10 gene. On the other hand, case 3 has absent epilepsy, and its PEX10 gene copy number was normal. Family investigation confirmed that the chromosome abnormalities in all of the 3 cases were of de novo type. Compared with healthy controls, real-time PCR showed that mRNA of the PEX10 gene was increased in case 1 but decreased in case 2.</p><p><b>CONCLUSION</b>The abnormal expression of PEX10 gene resulting from copy number variations of 1p36 region may be associated with the epilepsy phenotype.</p>