An Intronic Deletional Variant Causing Mucolipidosis Type III Gamma: Case Report with Review of Literature
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Genetic Clinics
Authors: Anupam Sisodia, Haseena Sait, Shubha R Phadke
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7117252527