Molecular characterization of mucolipidosis: A case-series from Iran.

GeneOct 21, 2026 (epub)
Case ReportMedical GeneticsPediatrics

Mohadeseh Fathi, Sheyda Khalilian, Parvaneh Karimzadeh et al.

✦ AI-curated · Sources linked

Case in brief

Six unrelated Iranian patients with mucolipidosis underwent molecular characterization. Pathogenic homozygous variants were identified in GNPTAB, GNPTG, and MCOLN1, with all variants classified as pathogenic under ACMG guidelines and supported by ClinVar and gnomAD data. Two patients shared the GNPTAB variant c.3503_3504del (p.L1168Qfs*5). The report describes clinical and molecular features across mucolipidosis subtypes; the abstract does not provide individual presentations, diagnostic work-ups, or clinical outcomes.

What made this case unusual

Two unrelated cases carried the same homozygous GNPTAB frameshift variant, c.3503_3504del (p.L1168Qfs*5), among cases with variants across three mucolipidosis-associated genes.

Diagnostic / clinical pearl

Molecular testing can identify pathogenic variants across GNPTAB, GNPTG, and MCOLN1 and help characterize mucolipidosis subtypes; homozygous findings may be relevant when assessing consanguineous families.

Source

PubMed · PMID 42906832

Published in Gene. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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