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DHDDS and NUS1: A Converging Pathway and Common Phenotype.

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Summary

Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a shared neurodevelopmental and movement disorder. Early recognition of this phenotype aids diagnosis through genetic testing.

Keywords:
DHDDSNUS1Nogo B receptordehydrodolichol diphosphate synthetasedolichol biosynthesis

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Area of Science:

  • Neurogenetics
  • Molecular Neuroscience
  • Developmental Neuroscience

Background:

  • Heterozygous variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) are linked to neurodevelopmental disorders.
  • These genes are crucial for dolichol synthesis, impacting N-glycosylation.
  • An overlapping phenotype, particularly a complex movement disorder, has been suggested due to their shared pathway.

Purpose of the Study:

  • To describe the clinical phenotype associated with variants in DHDDS and NUS1.
  • To consolidate findings from case studies and literature review to define a convergent phenotype.
  • To highlight diagnostic clues and suggest improved diagnostic strategies.

Main Methods:

  • Clinical description of three patients with DHDDS variants and five with NUS1 variants.
  • Review of 98 reports of heterozygous variants in DHDDS, NUS1, and 6q22.1 structural alterations.
  • Neurophysiological confirmation of myoclonus, including facial electromyography.

Main Results:

  • A similar phenotype dominated by multifocal myoclonus, exacerbated by action, with facial involvement.
  • Gait ataxia, disproportionately impaired tandem gait, hypotonia at birth, and developmental delay were observed.
  • Convergent phenotype includes dystonia, parkinsonism, periodic exacerbations, stereotypies, anxiety, and dysmorphisms; transferrin isoform profiles and imaging are typically normal.

Conclusions:

  • Recognition of the shared phenotype can expedite diagnosis of DHDDS/NUS1-related disorders.
  • Chromosomal microarray and inclusion in movement disorder gene panels are recommended diagnostic approaches.
  • This study refines the understanding of the phenotypic spectrum associated with defects in dolichol synthesis.