An Intronic Deletional Variant Causing Mucolipidosis Type III Gamma: Case Report with Review of Literature

Mucolipidosis (ML) is characterized by clinical and radiological features overlapping with other storage disorders, like groups of mucopolysaccharidoses and other oligosaccharidoses. We present a case of ML III gamma caused by a homozygous deletional intronic variant GNPTG (NM_032520.5, GRCh38) c.609+28_610-17del. We reviewed the literature, which proved that this deletion harbors an intron splicing enhancer region. Functional studies have been performed earlier, which have concluded that the intronic deletion (c.609+28_610-17del) elicits a nonsense-mediated decay.