Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation

URN to cite this document:: urn:nbn:de:bvb:355-epub-780164
DOI to cite this document:: 10.5283/epub.78016

van der Ven, Amelie T. ; Hempel, Maja ; Kruse, Claas ; Blohm, Martin ; Grolle, Benjamin ; Kubisch, Christian

; Lessel, Davor

License: Creative Commons Attribution Non-commercial No Derivatives 4.0
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Date of publication of this fulltext: 23 Oct 2025 14:31

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Abstract

Objectives Congenital central hypoventilation syndrome (CCHS) is a rare breathing disorder, pre- dominantly caused by deleterious alterations in the PHOX2B gene. This report describes a rare case with PHOX2B-negative CCHS. Methods We conducted a 10-year follow-up, including a clinical evaluation, polysomnography, brain MRI, analyses of blood and CSF, electrodiagnostic testing, and ...