Clinical Report: Analysis of Clinical Features and GNPTAB Gene Mutation Variability

Overview

This study describes the clinical features and mutational characteristics of Chinese patients with Mucolipidosis type II α/β (ML II α/β), revealing a severe phenotype and a unique mutational hotspot in the GNPTAB gene.

Background

Mucolipidosis type II α/β is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GNPTAB gene, leading to significant clinical heterogeneity. Early diagnosis is crucial as affected children often present with severe symptoms and have a poor prognosis, primarily due to respiratory failure.

Data Highlights

Key Findings

• All patients presented with skeletal deformities (100%).
• 96.4% had coarse facial features.
• 94.6% experienced developmental delay.
• The median age at diagnosis was 17.5 months.
• NM_024312.4:c.1090C>T (p.Arg364*) was the most common mutation, found in 39.3% of patients.
• Common comorbidities included cardiac abnormalities (16.1%) and pulmonary complications (12.5%).

Clinical Implications

Clinicians should be aware of the severe phenotype associated with this disorder to ensure timely diagnosis and management.

Conclusion

This study highlights the severe clinical manifestations and unique genetic characteristics of ML II α/β in the Chinese population.

Related Resources & Content

1. Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta | BMC Pediatrics | Springer Nature Link
2. GNPTAB-Related Disorders
3. Acta Neuropathologica — Hereditary globular glial tauopathy associated with MAPT gene mutations: insights into molecular neuropathology and the seeding potential of a representative mixed neuronal and glial tauopathy
4. Acta Neuropathologica — Altered Protein Expression and Loss in White Matter Observed in Human Brain Tissue with Somatic SLC35A2 Variants Associated with MOGHE
5. Clinical Rheumatology — Reduced osteoarticular manifestations in type VI mucopolysaccharidosis: case studies of four individuals and a literature overview
6. Frontiers in Pediatrics — Clinical and genetic characteristics of children with sodium taurocholate cotransporting poly-peptide deficiency
7. GNPTAB-Related Disorders
8. https://www.mayocliniclabs.com/-/media/it-mmfiles/Special-Instructions/D/2/D/Lysosomal-Disorders-Diagnostic-Algorithm-Part2
9. Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta | BMC Pediatrics | Springer Nature Link