Congenital immobility and stiffness related to biallelic ATAD1 variants - Sorbonne Université
Journal Articles Neurology Genetics Year : 2020

Congenital immobility and stiffness related to biallelic ATAD1 variants

Sandra Whalen
Boris Keren
Kim Maincent
  • Function : Author
Lydie Burglen
Pierre-Louis Léger
  • Function : Author
François Kieffer
  • Function : Author
Isabelle Martin
  • Function : Author
Julien Buratti

Abstract

Objective: To delineate the phenotype associated with biallelic ATAD1 variants. Methods: We describe 2 new patients with ATAD1-related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients. Results: Patients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation. Both had absent brainstem evoked auditory responses (BEARs). Patient 1 carried the homozygous p.(His357Argfs*15) variant in ATAD1. In the light of the finding in patient 1, a second reading of exome data for patient 2 revealed the novel homozygous p.(Gly128Val) variant. Conclusions: Analysis of the phenotypes of these 2 patients and of the 6 previous cases showed that biallelic ATAD1 mutations are responsible for a unique congenital encephalopathy likely comprising absent BEAR, different from hyperekplexia and other conditions with neonatal hypertonia.
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Dates and versions

hal-02989474 , version 1 (05-11-2020)

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Roxane Bunod, Diane Doummar, Sandra Whalen, Boris Keren, Sandra Chantot-Bastaraud, et al.. Congenital immobility and stiffness related to biallelic ATAD1 variants. Neurology Genetics, 2020, 6 (6), pp.e520. ⟨10.1212/NXG.0000000000000520⟩. ⟨hal-02989474⟩
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