A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

Jieni Zhang; Huaxiang Zhao; Wenbin Huang; Fengqi Song; Wenjie Zhong; Mengqi Zhang; Yunfan Zhang; Zhibo Zhou; Jiuxiang Lin; Feng Chen

doi:10.1016/j.gendis.2019.12.003

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A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

更新时间：2022-06-24

- A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family
- Genes & Diseases Vol. 7, Issue 3, (2020)
- 作者机构：
  
  1. Department of Orthodontics, Peking University School and Hospital of Stomatology,Beijing,China
  2. Department of Orthodontics, College of Stomatology, Xi'an Jiaotong University,Shaanxi,Xi'an,China
  3. Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology,Beijing,China
  4. Central Laboratory, Peking University School and Hospital of Stomatology,Beijing,China
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.12.003
  CLC：
- Published：2020，
  
  Published Online：1 September 2020，
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Jieni Zhang, Huaxiang Zhao, Wenbin Huang, et al. A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family. [J]. Genes & Diseases 7(3).(2020)
DOI：

Jieni Zhang, Huaxiang Zhao, Wenbin Huang, et al. A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family. [J]. Genes & Diseases 7(3).(2020) DOI： 10.1016/j.gendis.2019.12.003.

摘要

Abstract

Cleft lip and/or palate (CL/P) is a most common craniofacial birth defect which has multifactorial etiology. In our study

we aimed to discover the underlying etiological gene variation in a Chinese family diagnosed as non-syndromic CL/P (NSCL/P). The blood sample of the proband and her parents were detected by whole exome sequencing. The Mendelian inheritance pattern

allele frequency

variation location

function analysis and literature search were applied to filtrate and screen the mutation. Besides

the candidates were confirmed by Sanger sequencing. We meanwhile explored the conservative analysis and protein homology simulation. As a result

a start-lost mutation c.1A

GAtg/Gtg in the Frizzled-6 (

FZD6

) gene predicting p.Met1 was detected. The variation has not been reported before and was predicted to be harmful. The alteration caused missing of two starting amino acids that are evolutionarily conserved for FZD6 protein. Moreover

the specific structure of the mutant protein obviously changed according to the results of the homologous model. In conclusion

the results suggest c.1A

GAtg/Gtg in the

FZD6

(NM_001164616) might be the genetic etiology for non-syndromic CL/P in this pedigree. Furthermore

this finding provided new etiologic information

supplementing the evidence that

FZD6

is a strong potential gene for CL/P.

关键词

Keywords

Cleft lip and/or palateFrizzled-6Hereditary pedigreeVariantWhole-exome sequencing

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