Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.</p><p><b>METHODS</b>Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqInherited Disease Panel. Detected mutations were verified by Sanger sequencing.</p><p><b>RESULTS</b>The child showed no clinical features except evaluated methionine. A novel compound mutation of the MAT1A gene, i.e., c.345delA and c.529C>T, was identified in the child. His father and mother were found to be heterozygous for the c.345delA mutation and c.529C>T mutation, respectively.</p><p><b>CONCLUSION</b>The compound mutation c.345delA and c.529C>T of the MAT1A gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.</p>