NGLY1 deficiency: Novel variants and literature review.

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.
PMID: 33497766 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - January 23, 2021 Category: Genetics & Stem Cells Authors: Kariminejad A, Shakiba M, Shams M, Namiranian P, Eghbali M, Talebi S, Makvand M, Jaeken J, Najmabadi H, Hennekam RC Tags: Eur J Med Genet Source Type: research