Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).</p><p><b>METHODS</b>Clinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.</p><p><b>RESULTS</b>The genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.</p><p><b>CONCLUSION</b>Based on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.</p>