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; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina (2021-09-29). "A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion". New England Journal of Medicine. 385 (14): 1292–1301. doi: 10.1056/NEJMoa2033911. PMC 9017221. PMID 34587386.
- ^ "Researchers Discover Unknown Childhood Genetic Condition and its Potential Cure". UC Health - UC San Diego. Retrieved 2021-10-06.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
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; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina (2021-09-29). "A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion". New England Journal of Medicine. 385 (14): 1292–1301. doi: 10.1056/NEJMoa2033911. PMC 9017221. PMID 34587386.
- ^ "Researchers Discover Unknown Childhood Genetic Condition and its Potential Cure". UC Health - UC San Diego. Retrieved 2021-10-06.
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| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |