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

Autor: Sneddon TP; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Gilmore KL; Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, USA., Xiong M; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA., Weck KE; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Powell BC; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Vora NL; Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 05, pp. e63861. Date of Electronic Publication: 2024 Sep 05.
DOI: 10.1002/ajmg.a.63861
Abstrakt: 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.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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