Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome

• Main Authors: Irina N. Artamonova (Author), Anna M. Zlotina (Author), Olga R. Ismagilova (Author), Tatyana A. Levko (Author), Natalia Yu Kolbina (Author), Aleksandr V. Bryzzhin (Author), Andrey P. Smorodin (Author), Alexandr V. Borodin (Author), Ekaterina A. Mamaeva (Author), Anna A. Sukhotskaya (Author), Ilya M. Kagantsov (Author), Daria A. Malysheva (Author), Elena S. Vasichkina (Author), Tatiana M. Pervunina (Author), Natalia A. Petrova (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

IntroductionCongenital central hypoventilation syndrome (CCHS) is a rare disease characterized by central alveolar hypoventilation and impaired autonomic regulation, caused by pathogenic variants of PHOX2B gene. More than 90% of patients have a polyalanine repeat mutation (PARM) in the heterozygous...