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A Novel EDAR Missense Mutation Identified by Whole Exome Sequencing with Non-Syndromic Tooth Agenesis in a Chinese Family
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  • Hongyu Zhang,
  • Xuanting Kong,
  • Jiabao Ren,
  • Shuo Yuan,
  • Chunyan Liu,
  • Yan Hou,
  • Ye Liu,
  • Lingqiang Meng,
  • Guozhong Zhang,
  • Qingqing Du,
  • Wenjing Shen
Hongyu Zhang
Hebei Medical University
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Xuanting Kong
Hebei Medical University
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Jiabao Ren
Hebei Medical University
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Shuo Yuan
Hebei Medical University
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Chunyan Liu
Hebei Medical University
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Yan Hou
Hebei Medical University
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Ye Liu
Hebei Medical University
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Lingqiang Meng
Hebei Medical University
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Guozhong Zhang
Hebei Medical University
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Qingqing Du
Hebei Medical University
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Wenjing Shen
Hebei Medical University
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Abstract

To investigate novel mutations of pathogenic genes responsible for non-syndromic tooth agenesis (NSTA) and to provide a genetic basis for the study of its pathogenesis. Peripheral blood samples of four pedigrees with NSTA were collected for DNA extraction. The coding region of the EDA1 gene was amplified by PCR and sequenced to investigate new mutations. Whole exome sequencing and Sanger sequencing were then performed for Family 4. A novel mutation c.338G>A (Cys113Tyr) in the EDAR gene was identified in a pedigree. In addition, three EDA1 mutations were identified in three patients: c.865C>T (Arg289Cys), c.866G>A (Arg289His), and c.1013C>T (Thr338Met). Genotype-phenotype correlation analysis of EDAR gene mutation showed that NSTA patients were most likely to lose the maxillary lateral incisors, and the maxillary first premolars were the least affected. The phenotype of mutations at codon 289 of EDA1 in NSTA reported patients were characterized by lateral incisors loss, rarely affecting the maxillary first molars. A novel EDAR missense mutation, c.338G>A (Cys113Tyr), was identified in a pedigree with NSTA, extending the mutation spectrum of the EDAR gene. Genotype-phenotype correlation analyses of EDAR and EDA1 mutation could help to improve disease status prediction in NSTA families.

Peer review status:POSTED

06 Sep 2020Submitted to Human Mutation
11 Sep 2020Assigned to Editor
11 Sep 2020Submission Checks Completed