Diagnosis of two neonates with galactosemia by using next generation sequencing / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic basis of two neonates suspected for galactosemia.</p><p><b>METHODS</b>Next generation sequencing(NGS) was used to screen the whole exome of the neonates. Suspected mutation was validated by PCR and Sanger sequencing. Potential impact of novel mutation was predicted by using PolyPhen-2, MutationTaste and SIFT software.</p><p><b>RESULTS</b>Both neonates harbored compound heterozygous mutations of the GALT gene inherited from their parents. One has inherited two novel mutations c.564G>C(p.Q188H) and c.116A>T(p.D39V) respectively from his father and mother. The other has inherited mutations c.754C>T(p.Q252X) and c.904+1G>T from her father and mother, respectively.</p><p><b>CONCLUSION</b>The galactosemia in the two neonates may be attributed to compound heterozygous mutations of the GALT gene. This is the first domestic report of using the NGS for the diagnosis of galactosemia.</p>