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 6 Sanger sequencing confirmed the variants (rs2385404 and rs2385405) in the RESP18 gene sequence (GRCh38.p14 chr2). (A) Sanger sequencing showed that the mutation of RESP18 (rs2385404, c.90G>T, p. Glu30Asp) resulted in the transformation of Glu into Asp in the amino acid sequence of RESP18 protein. (B) Sanger sequencing results indicated that the RESP18 variant (rs2385405, c.157G>A, p. Glu53Lys) resulted in the transformation of Glu into Lys in the amino acid sequence of the RESP18 protein. Glu – glutamic acid, Asp – aspartic acid, Lys – lysine.

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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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