Medicine:Zaki syndrome
From HandWiki
Short description: A rare genetic syndrome caused by a mutation in WLS gene
Zaki syndrome is a syndrome characterized by microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, coloboma, and heart defects. It is caused by a homozygous missense mutation in the WLS gene on the short arm of chromosome 1 in humans (1p31.3), which encodes the Wnt ligand secretion mediator, also known as Wntless. The mutation was identified in 10 persons from 5 unrelated families and the syndrome was published for the first time in September 2021 in the New England Journal of Medicine.[1] Zaki syndrome is named after Maha S. Zaki, a co-author of the publication.[2]
References
- ↑ Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan et al. (2021-09-29). "A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion" (in en). New England Journal of Medicine 385 (14): 1292–1301. doi:10.1056/NEJMoa2033911. PMID 34587386.
- ↑ "Researchers Discover Unknown Childhood Genetic Condition and its Potential Cure" (in en-US). https://health.ucsd.edu/news/releases/Pages/2021-09-29-researchers-discover-unknown-childhood-genetic-condition-and-its-potential-cure.aspx.
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