Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic cause for a child with growth retardation by next generation sequencing (NGS).@*METHODS@#Clinical data of the patient was collected. Peripheral venous blood samples were taken from the neonate and his parents. Targeted capturing and NGS were carried out to detect mutations of genes associated with inborn errors of metabolism. Suspected mutations were validated by Sanger sequencing.@*RESULTS@#The 15-month-old female patient was admitted to hospital for growth retardation for 4 months. Hypomyelination was found upon cranium MRI. Genetic testing revealed two novel insertional mutations in the GLB1 gene in the patient, namely c.2006-2007insT and c.475-476 insGGTCC.@*CONCLUSION@#The c.2006-2007insT and c.475-476 insGGTCC mutations of the GLB1 gene probably underlie the GM1 gangliosidosis resulting in the growth retardation in the child.