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- Title
Compound heterozygous variants in WLS gene causes Zaki syndrome.
- Authors
Yu, Cuicui; Wang, Chunli; Zhou, Wei; Zhang, Aihua; Jia, Zhanjun; Zheng, Bixia; Ding, Guixia
- Abstract
Biallelic 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).
- Subjects
GENETIC variation; FACIAL abnormalities; CHINESE people; WNT signal transduction; SYNDROMES; KOUNIS syndrome; AGENESIS of corpus callosum
- Publication
Clinical Genetics, 2023, Vol 104, Issue 2, p226
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14334