De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

doi:10.1016/j.ajhg.2026.05.012

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Article

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

American journal of human genetics - 2 Jul 2026

Fluri Rebecca, Coll-Tané Mireia, Brunet Theresa, Cogne Benjamin, Conrad Solene, Nizon Mathilde, Nicita Francesco, Travaglini Lorena, Novelli Antonio, Glissmeyer Margie, Peterson Amanda, Buchan Jillian G, Serber Dan, Meier Kolja, Gärtner Jutta, Diegmann Susann, Pingault Veronique, Attie-Bitach Tania, Courtin Thomas, Schneider Michael C, Hung Wing, Sahai Inderneel, O'Grady Lauren, Steindl Katharina, Mehta Sarju G, Depienne Christel, Heron Delphine, Keren Boris, Heide Solveig, McKee Shane, Laccone Franco, Dyer Lisa M, Melver Catherine, Motter Connie, Jones Wendy D, Wilson Zoey Trueblood, Vats Divya, Huß Kristina, Zweier Christiane, Sticht Heinrich, Gregor Anne

Abstract excerpt

LDB1 encodes transcriptional regulator protein LIM domain-binding protein 1, which plays an important role in neurogenesis. Few C-terminal likely gene-disrupting (LGD) variants have been reported in the literature in individuals with congenital ventriculomegaly. Through international collaboration, we now assembled a cohort of 16 individuals with de novo variants affecting various regions of LDB1. Eleven variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42320471
DOI: 10.1016/j.ajhg.2026.05.012
PMCID: PMC13504347

Genes

LDB1
LHX2

Provenance

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

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