Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.

ABSTRACT:

Background

Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal deformities and developmental delay. Homozygous or compound heterozygous mutations in GNPTAB gene are associated with the clinical presentation. This is the first study to characterize the underlying genetics of ML among a cohort of Egyptian patients. ML II diagnosis established by clinical assessment, biochemical evaluation of enzymes, electron microscopy examination of gingival inclusion bodies, and molecular study of GNPTAB gene using targeted next-generation sequencing panel in 8 patients form 8 unrelated Egyptian families.

Results

SUBMITTER: Essawi ML 

PROVIDER: S-EPMC8333150 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature