Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martinez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S, Mao X.
Ji L, et al.
J Clin Invest. 2025 Jul 3;135(18):e186119. doi: 10.1172/JCI186119. eCollection 2025 Sep 16.
J Clin Invest. 2025.
PMID: 40608414
Free PMC article.
Here, we investigated the role of SNW domain-containing protein 1 (SNW1), a spliceosomal protein, in splicing integrity and neurodevelopment. We identified 9 heterozygous mutations in the SNW1 gene in patients presenting with primary microcephaly. These mutations im …
Here, we investigated the role of SNW domain-containing protein 1 (SNW1), a spliceosomal protein, in splicing integrity and neurodeve …