Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

doi:10.1016/j.ajhg.2026.03.010

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Article

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

American journal of human genetics - 7 May 2026

Tibbe Debora, Vogt Marie Ronja, Holling Tess, Schlieben Lea Dewi, Kortüm Fanny, Shoukier Moneef, Bagowski Christoph, Distelmaier Felix, Averdunk Luisa, Knaus Alexej, Krawitz Peter, Kuechler Alma, Lainka Elke, Stalke Amelie, von Hardenberg Sandra, Auber Bernd, Pfister Eva-Doreen, Reversade Bruno, Sabbagh Anthony, Bertoli-Avella Aida M, Alawbathani Salem, Palmer Elizabeth E, Chauhan Manisha, Rius Rocio, Kim Yoonji, Papingi Dzhoy, Bartholdi Deborah, Braun Dominique, Maier Oliver, Dinwiddie April, Steichen-Gersdorf Elisabeth, Janecke Andreas R, Tiulpakov Anatoly, Zernov Nikolay, Arismendi Maria Izabel, Jorge Alexander A L, Goel Himanshu, Dreyer Lauren, Loughman Lily, Prokisch Holger, Borgmann Kerstin, Kutsche Kerstin

Abstract excerpt

DNA replication is carried out by the replisome and is essential for maintaining genome integrity and cell proliferation. Pathogenic variants in genes encoding various replisome components cause microcephalic primordial dwarfism (MPD), characterized by growth retardation, microcephaly, and developmental abnormalities. Here, we report bi-allelic hypomorphic variants in WDHD1 as a cause of MPD with a broad spectrum...

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Identifiers

PMID: 41962535
DOI: 10.1016/j.ajhg.2026.03.010
PMCID: PMC13277691

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