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Ngly1 Deficiency: Novel Variants and Literature Review Publisher Pubmed



Kariminejad A1 ; Shakiba M2 ; Shams M1 ; Namiranian P1 ; Eghbali M3 ; Talebi S4 ; Makvand M1 ; Jaeken J5 ; Najmabadi H1, 6 ; Hennekam RC7
Authors

Source: European Journal of Medical Genetics Published:2021


Abstract

NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary movements, and decreased or absent tear production. Liver biopsy demonstrates vacuolar amorphous cytoplasmic storage material. NGLY1 deficiency is caused by bi-allelic variants in NGLY1 which catalyzes protein deglycosylation. We describe five patients from two families with NGLY1 deficiency due to homozygosity for two novel NGLY1 variants, and compare their findings to those of earlier reported patients. The typical features of the disorder are present in a limited way, and there is intra-familial variability. In addition in one of the families the muscle atrophy and posture abnormalities are marked. These can be explained either as variability of the phenotype or as sign of slowly progression of features as the present affected individuals are older than earlier reported patients. © 2021 Elsevier Masson SAS
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