Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

doi:10.1111/cge.70169

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Article

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Clinical genetics - 1 Aug 2026

van Oirsouw Amber S E, Hsieh Tzung-Chien, Koetsier Martijn, Alali Abdulrazak, Albuainain Fatimah, Bacchelli Elena, Barakat Tahsin Stefan, Capri Yline, Chantot-Bastaraud Sandra, Capra Valeria, Carere Deanna Alexis, Clement Emma, Elkhateeb Nour, Franchi Madeleine, Li Jing-Mei, Matthews Nicole, McNiven Vanda, Mehta Sarju G, Nakamura Masayuki, Phornphutkul Chanika, Revencu Nicole, Scala Marcello, Shallow Natalie, Stefanich Jennifer, Viggiano Marta, Visconti Paola, Walker Susan, Zara Federico, Alders Mariëlle, Koeleman Bobby P C, Oegema Renske

Abstract excerpt

The recently delineated KDM2B-associated neurodevelopmental disorder (NDD) is characterized by developmental delay and variable co-morbidity. Genotype-phenotype correlations are emerging, in particular a distinct clinical presentation caused by CxxC domain variants. We report here a novel intragenic deletion which leads to in vitro expression of a shortened KDM2B protein lacking the complete CxxC domain. In...

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Identifiers

PMID: 41954311
DOI: 10.1111/cge.70169
PMCID: PMC13327229

Genes

KDM2B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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