Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft

Huaxiang Zhao; Wenjie Zhong; Wenbin Huang; Guozhu Ning; Jieni Zhang; Mengqi Zhang; Peiqi Meng; Yunfan Zhang; Qian Zhang; Hongping Zhu; Gulibaha Maimaitili; Yi Ding; Weiran Li; Wei Liang; Zhibo Zhou; Qiang Wang; Feng Chen; Jiuxiang Lin

doi:10.1093/procel/pwae021

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Protein Cell ›› 2024, Vol. 15 ›› Issue (10) : 783-789. DOI: 10.1093/procel/pwae021

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Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft

Huaxiang Zhao¹^,² ,
Wenjie Zhong¹^,³ ,
Wenbin Huang¹^,⁴ ,
Guozhu Ning⁵ ,
Jieni Zhang¹^,⁶ ,
Mengqi Zhang¹ ,
Peiqi Meng¹ ,
Yunfan Zhang¹ ,
Qian Zhang⁶^,⁷ ,
Hongping Zhu⁶^,⁸ ,
Gulibaha Maimaitili⁹ ,
Yi Ding¹⁰ ,
Weiran Li¹^,⁶ ,
Wei Liang¹^,⁶ ,
Zhibo Zhou⁶^,⁸ ,
Qiang Wang¹¹ ,
Feng Chen⁶^,⁷ ,
Jiuxiang Lin¹^,⁶

Author information +

¹. Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing 100081, China

². Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi’an Jiaotong University, Xi’an 710049, China

³. College of Stomatology, Chongqing Medical University; Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences; Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education, Chongqing 400016, China

⁴. Department of Orthodontics, Stomatological Center, Peking University Shenzhen Hospital, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen 518036, China

⁵. Affiliated Hospital of Guangdong Medical University & Zhanjiang Key Laboratory of Zebrafish Model for Development and Disease, Guangdong Medical University, Zhanjiang 524023, China

⁶. National Center of Stomatology, National Clinical Research Center for Oral Diseases, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory for Digital Stomatology, Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health, NMPA Key Laboratory for Dental Materials, Beijing 100191, China

⁷. Central Laboratory, Peking University School and Hospital of Stomatology, Beijing 100081, China

⁸. Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing 100191, China

⁹. The Second Affiliated Hospital of Xinjiang Medical University and Xinjiang Key Laboratory of Neurological Disorder Research, Urumqi 830028, China

¹⁰. Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Xi’an Jiaotong University, Xi’an 710049, China

¹¹. Innovation Centre of Ministry of Education for Development and Diseases, Sixth Affiliated Hospital, School of Medicine, South China University of Technology, Guangzhou 511442, China

bmuliang@bjmu.edu.cn

zzbooo@126.com

qiangwang@scut.edu.cn

chenfeng2011@hsc.pku.edu.cn

jxlin@pku.edu.cn

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Huaxiang Zhao, Wenjie Zhong, Wenbin Huang, Guozhu Ning, Jieni Zhang, Mengqi Zhang, Peiqi Meng, Yunfan Zhang, Qian Zhang, Hongping Zhu, Gulibaha Maimaitili, Yi Ding, Weiran Li, Wei Liang, Zhibo Zhou, Qiang Wang, Feng Chen, Jiuxiang Lin. Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft. Protein Cell, 2024, 15(10): 783‒789 https://doi.org/10.1093/procel/pwae021

References

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[1]	Bishop MR, Diaz Perez KK, Sun M et al. Genome-wide enrichment of De Novo coding mutations in Orofacial Cleft Trios. Am J Hum Genet 2020;107:124–136. CrossRef Google scholar

[2]	Cordero DR, Brugmann S, Chu Y et al. Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A 2011;155:270–279. CrossRef Google scholar

[3]	Dixon MJ, Marazita ML, Beaty TH et al. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 2011;12:167–178. CrossRef Google scholar

[4]	Gorbea C, Goellner GM, Teter K et al. Characterization of mammalian Ecm29, a 26 S proteasome-associated protein that localizes to the nucleus and membrane vesicles. J Biol Chem 2004;279:54849–54861. CrossRef Google scholar

[5]	Haratake K, Sato A, Tsuruta F et al. KIAA0368-deficiency affects disassembly of 26S proteasome under oxidative stress condition. J Biochem 2016;159:609–618. CrossRef Google scholar

[6]	He Q, Hao X, Bao S et al. A392V and R945X mutations cause orofacial clefts via impairing PTCH1 function. Genomics 2022;114:110507. CrossRef Google scholar

[7]	Huang W, He Q, Li M et al. Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only. Oral Dis 2023;29:1632–1643. CrossRef Google scholar

[8]	Leslie EJ. Genetic models and approaches to study orofacial clefts. Oral Dis 2022;28:1327–1338. CrossRef Google scholar

[9]	Lord J, McMullan DJ, Eberhardt RY et al; Prenatal Assessment of Genomes and Exomes Consortium. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393:747–757. CrossRef Google scholar

[10]	Massenburg BB, Hopper RA, Crowe CS et al. Global Burden of Disease 2017 Orofacial Clefting Collaborators. Global burden of orofacial clefts and the world surgical workforce. Plast Reconstr Surg 2021;148:568e–580e. CrossRef Google scholar

[11]	Miettinen TP, Peltier J, Härtlova A et al. Thermal proteome profiling of breast cancer cells reveals proteasomal activation by CDK4/6 inhibitor palbociclib. EMBO J 2018;37:e98359. CrossRef Google scholar

[12]	Peyrard-Janvid M, Leslie EJ, Kousa YA et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet 2014;94:23–32. CrossRef Google scholar

[13]	Reynolds K, Zhang S, Sun B et al. Genetics and signaling mechanisms of orofacial clefts. Birth Defects Res 2020;112:1588–1634. CrossRef Google scholar

[14]	Robu ME, Larson JD, Nasevicius A et al. p53 activation by knockdown technologies. PLoS Genet 2007;3:e78. CrossRef Google scholar

[15]	Zuk O, Schaffner SF, Samocha K et al. Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A 2014;111:E455–E464. CrossRef Google scholar