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Article

Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.

Clinical genetics - 1 Aug 2024

Pauly Melissa, Krumbiegel Mandy, Trumpp Sandra, Braig Sonja, Rupprecht Thomas, Kraus Cornelia, Uebe Steffen, Reis André, Vasileiou Georgia

Abstract excerpt

CTNND2 encodes δ-catenin, a component of an adherens junction complex, and plays an important role in neuronal structure and function. To date, only heterozygous loss-of-function CTNND2 variants have been associated with mild neurodevelopmental delay and behavioral anomalies, a condition, which we named Rauch-Azzarello syndrome. Here, we report three siblings of a consanguineous family of Syrian descent with a...

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Identifiers

PMID: 38604781
DOI: 10.1111/cge.14532

Genes

CTNND2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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