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

Tam P Sneddon1,2, Kelly L Gilmore3, Mai Xiong1

  • 1Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

American Journal of Medical Genetics. Part A
|September 5, 2024
PubMed
Summary

Loss-of-function variants in the WDR44 gene cause X-linked ciliopathy, a neurodevelopmental disorder. This study reports the first prenatal case of WDR44 loss-of-function, confirming its role in this condition.

Keywords:
WDR445′UTRX‐linkedciliopathyloss‐of‐functionprenatalpromoter

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