Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa.</p><p><b>METHODS</b>Clinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. All exons and their flanking sequences of the AGL gene were subjected to PCR amplification and Sanger sequencing. Suspected mutation was verified in 75 healthy controls.</p><p><b>RESULTS</b>The main clinical features of the two siblings included hypoglycemia and hepatomegaly, along with markedly elevated liver and myocardial enzymes. Genetic analysis revealed that both siblings harbored compound heterozygous mutations c.1735+1G>T and c.959-1G>C of the AGL gene. Among these, the splicing mutation c.959-1G>C was a novel one with an allele frequency of <1%.</p><p><b>CONCLUSION</b>Based on their clinical features and genetic analysis, the siblings were diagnosed with glycogen storage disease type IIIa. The c.959-1G>C has enriched the spectrum of AGL gene mutations.</p>

Phenotypic and genetic analysis of a family affected with microvillus inclusion disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease.</p><p><b>METHODS</b>Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene.</p><p><b>RESULTS</b>The patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea. A compound mutation of the MYO5B gene, i.e., IVS37-1G>C/c.2729_2731delC (p.R911Afs916X), was discovered in the patient. The former was a splice-site mutation inherited from the mother, while the latter was a frameshift mutation inherited from the father. Both were not reported previously.</p><p><b>CONCLUSION</b>Based on the clinical and molecular evidence, the patient was diagnosed with microvillus inclusion disease. Above finding has expanded the mutation spectrum of the MYO5B gene, which can provide valuable information for genetic counseling for the family.</p>