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Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Clinical genetics - 1 Jan 2026

Marinakis Nikolaos M, Kampouraki Afrodite, Veltra Danai, Tilemis Faidon-Nikolaos, Vasilopoulou Maria, Dokou Aikaterini, Georgiadou Elissavet, Karavergou Euthalia, Christolouka Maria, Alexopoulos Alexis, Kirillidi Dimitra, Goudesidou Maria, Kosma Konstantina, Sofocleous Christalena, Makrythanasis Periklis

Abstract excerpt

WDR91, a WD40 repeat domain-containing protein, is a key regulator of endosomal trafficking, lysosomal function, and autophagy. It acts as a Rab7 effector, forming a complex with WDR81 to modulate phosphatidylinositol 3-kinase (PI3K) activity, endosomal maturation, and lysosome homeostasis. Loss-of-function variants in WDR91 are considered related to endosomal accumulation, impaired cargo degradation, and...

Topics

Humans
Male
Female
Pedigree
Exome Sequencing
Microcephaly
Phenotype
Carrier Proteins
Mutation
Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Consanguinity

Genetic Predisposition to Disease

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Open in PubMed Open full text

Identifiers

PMID: 40550703
DOI: 10.1111/cge.70012
PMCID: PMC12674976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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