Table 3.

Sanger sequencing of the GNPTAB gene identified the compound heterozygous mutations c.673 > T in exon and c.1090 > T in exon 9 in this patient, and all mutations were pathogenic.

Gene	Type of mutation	Nucleotide change	Amino acid change	Exons	OMIM clinical phenotype	American College of Medical Genetics classification
GNPTAB	Nonsense	763C > T	NM_024312: p.Q225*,1032(p.Gln225Ter,1032)	Exon 6	Mucolipidosis II alpha/beta/AR; Mucolipidosis III alpha/beta	PVS1 + PM2 + PM3
GNPTAB	Nonsense	1090C > T	NM_024312: p.R364*,893(p.Arg364Ter,893)	Exon 9	Mucolipidosis II alpha/beta/AR; Mucolipidosis III alpha/beta	PVS1 + PM2 + PM3