Compound heterozygous variants in WLS gene causes Zaki syndrome

Author:

Yu Cuicui1,Wang Chunli2,Zhou Wei2,Zhang Aihua1,Jia Zhanjun2,Zheng Bixia2ORCID,Ding Guixia1

Affiliation:

1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing 210008 China

2. Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing 210008 China

Abstract

AbstractBiallelic Wnt ligand secretion mediator (WLS gene) variants are associated with Zaki syndrome (OMIM: #619648). Here, we report the first case with Zaki syndrome in the Chinese population. Whole‐exome gene sequencing (WES) identified compound heterozygous variants in the WLS gene (c.1427A > G; p.Tyr476Cys and c.415C > T, p.Arg139Cys; NM_001002292) in a 16‐year‐old boy presenting with facial dysmorphism, astigmatism, renal agenesis, and cryptorchidism. In vitro functional characterization showed that the two variants led to decreased WLS production and secretion of WNT3A, eventually affecting the WNT signal. We also found that the decreased mutant WLS expression can be rescued by 4‐Phenylbutyric acid (4‐PBA).

Funder

National Key Research and Development Program of China

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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