Neurology. Genetics · 2020
Congenital immobility and stiffness related to biallelic ATAD1 variants.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Bunod Roxane, Doummar Diane, Whalen Sandra, Keren Boris, Chantot-Bastaraud Sandra, Maincent Kim, Villy Marie-Charlotte, Mayer Michèle, Rodriguez Diana, Burglen Lydie, Léger Pierre-Louis, Kieffer François, Martin Isabelle, Héron Delphine, Buratti Julien, Isapof Arnaud, Afenjar Alexandra, Billette de Villemeur Thierry, Mignot Cyril
Аннотация
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.
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.