Details

Autor(en) / Beteiligte

• 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

Titel

Congenital immobility and stiffness related to biallelic ATAD1 variants

Ist Teil von

• Neurology. Genetics, 2020-12, Vol.6 (6), p.e520-e520

Ort / Verlag

United States: American Academy of Neurology

Erscheinungsjahr

2020

Quelle

EZB Free E-Journals

Beschreibungen/Notizen

• To delineate the phenotype associated with biallelic variants. We describe 2 new patients with -related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients. 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 . 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. Analysis of the phenotypes of these 2 patients and of the 6 previous cases showed that biallelic mutations are responsible for a unique congenital encephalopathy likely comprising absent BEAR, different from hyperekplexia and other conditions with neonatal hypertonia.