Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Xiaoping Zhong; Xiaosha Han; Qihu Xie; Wanxian Chen; Deyi Geng; Genghong Guo; Xuefen Chen; Wancong Zhang; Jiasheng Chen; Shijie Tang

doi:10.12659/MSM.944294

06 July 2024 : Clinical Research

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Xiaoping Zhong^12ACEG, Xiaosha Han^12BCD, Qihu Xie^12BCD, Wanxian Chen^12BCD, Deyi Geng^12EF, Genghong Guo^12EF, Xuefen Chen^12BCD, Wancong Zhang^12A, Jiasheng Chen^12DE, Shijie Tang^12ACE*

DOI: 10.12659/MSM.944294

Med Sci Monit 2024; 30:e944294

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Figure 5 Venn diagram of variant position between WGS cohort (filled in green), WES cohort (filled in yellow) and ClinVar cohort. A total of 7624 mutations were screened, including 1754 mutations in the WGS cohort (23.0%) and 123 mutations in the WES cohort (1.6%). Nine variant positions overlapped between the 3 study cohorts (RESP18, LSR, SPATS2L, ZNF277, IHH, C2orf69, KIR3DL1, MUC3A, PRKAG3), and 2 of them were rs2385405 and rs2385404 in RESP18 gene. WGS, whole-gonome sequencing. WES – whole-exome sequencing. ChinVar cohort – Clinical Variation Data Base. NCBI showed that these 2 mutation sites could affect the synthesis and function of RESP18 protein. NCBI, National Center for Biotechnology Information.

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Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

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