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Case Reports
. 2025 Jan;197(1):e63861.
doi: 10.1002/ajmg.a.63861. Epub 2024 Sep 5.

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype

Tam P Sneddon  1   2 , Kelly L Gilmore  3 , Mai Xiong  1 , Karen E Weck  1   2 , Bradford C Powell  2 , Neeta L Vora  3
Affiliations
Case Reports

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype

Tam P Sneddon et al. Am J Med Genet A. 2025 Jan.

Abstract

Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on a WDR44 loss-of-function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X-linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions. This is the first report of a WDR44 LOF variant in an affected individual with a prenatal presentation and supports LOF as a mechanism for the X-linked WDR44 ciliopathy-related phenotype.

Keywords: WDR44; 5′UTR; X‐linked; ciliopathy; loss‐of‐function; prenatal; promoter.

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