[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β].

Objective To analyze the clinical features and genetic mutations in a patient with mucolipidosis type Ⅱα/β by using next generation sequencing. Methods Clinical data of the patient was collected. Genomic DNA of the patient and her parents was extracted by a standard method. The patient was subjected to targeted sequencing using an Ion Ampliseq panel which included genes related to mucolipidosis and mucopolysaccharidosis. Suspected mutations were verified by Sanger sequencing. Results A compound heterozygous mutation c. 1284+ 1G>T、c.1090C>T (p.Arg364*) was detected in the patient, which were respectively inherited from her mother and father. No other disease-causing mutation was detected in the patient. GNPTAB c. 1090C>T is known to be pathogenic, while GNPTAB c. 1284+ 1G>T is a novel mutation. The same mutations were not detected among 50 healthy controls. Conclusion The compound heterozygous mutation c. 1284+ 1G>T and c. 1090C>T (p.Arg364*) of GNPTAB gene probably account for the mucolipidosis type Ⅱα/β in the patient. NGS technique has a great value for the molecular diagnosis and typing of mucolipidosis. Key words: Mucolipidosis type Ⅱα/β; GNPTAB gene; Mutation