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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.

Congenital immobility and stiffness related to biallelic ATAD1 variants