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Congenital immobility and stiffness related to biallelic ATAD1 variants.

Authors :: Bunod R
Doummar D
Whalen S
Keren B
Chantot-Bastaraud S
Maincent K
Villy MC
Mayer M
Rodriguez D
Burglen L
Léger PL
Kieffer F
Martin I
Héron D
Buratti J
Isapof A
Afenjar A
Billette de Villemeur T
Mignot C
Source :: Neurology. Genetics [Neurol Genet] 2020 Sep 24; Vol. 6 (6), pp. e520. Date of Electronic Publication: 2020 Sep 24 (Print Publication: 2020).
Publication Year :: 2020
Abstract: Objective: To delineate the phenotype associated with biallelic ATAD1 variants.<br />Methods: We describe 2 new patients with ATAD1 -related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients.<br />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.<br />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.<br /> (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)