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首页> 外文期刊>American journal of medical genetics, Part A >Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia
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Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia

机译：双位等位基因Wnt10a突变对Odonto-onycho-dermal dysplasia永久性和原代牙列的显着影响

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摘要

Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless-type MMTV integration site family member 10A (WNT10A) gene have been associated with OODD. To date, only 11 OODD-associated WNT10A mutations have been reported. In this report, we Characterized the clinical manifestations with focusing on dental phenotypes in four unrelated OODD patients. By Sanger sequencing, we identified five novel mutations in the WNT10A gene, including two homozygous nonsense mutations c.1176CA (p.Cys392*) and c.742CT (p.Arg248*), one homozygous frame-shift mutation c.898-899delAT (p.Ile300Profs*126), and a compound heterozygous mutation c.826TA (p.Cys276Ser) and c.949delG (p.Ala317Hisfs*121). Our findings confirmed that bi-allelic mutations of WNT10A were responsible for OODD and greatly expanded the mutation spectrum of OODD. For the first time, we demonstrated that bi-allelic WNT10A mutations could lead to anodontia of permanent teeth, which enhanced the phenotypic spectrum of WNT10A mutations. Interestingly, we found that bi-allelic mutations in the WNT10A gene preferentially affect the permanent dentition rather the primary dentition, suggesting that the molecular mechanisms regulated by WNT10A in the development of permanent teeth and deciduous teeth might be different.
机译：Odonto-Onycho-Dermal dysplasia（OODD）是一种稀有的常血糖隐性综合征，其特征在于多种异位异常。无翼型MMTV集成位点系列成员10A（WNT10A）基因的突变与OODD有关。迄今为止，已经报告了11个oodd相关的Wnt10a突变。在本报告中，我们的特点是临床表现，重点关注四个无关的OODD患者的牙科表型。通过Sanger测序，我们在Wnt10A基因中鉴定了五种新突变，包括两个纯合非义突变C.1176C＆GT; a（p.arg248 *），一个纯合框架变化突变C.1（p.arg248 *） .898-899Delat（P.ILE300PROFS * 126），以及化合物杂合突变C.826T＆GT; a（p.cys276ser）和c.949delg（p.ala317hisfs * 121）。我们的研究结果证实，WNT10A的双位等位基因突变对OODD负责，大大扩展了OODD的突变谱。我们首次证明双位等位基因Wnt10a突变可能导致永久性牙齿的Anodontia，这增强了Wnt10a突变的表型谱。有趣的是，WNT10A基因中的双位等位基因突变优先影响永久牙列而不是主要牙列，这表明WNT10A在恒牙和落叶齿的发育中调节的分子机制可能是不同的。

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    Yu Miao; Liu Yang; Liu Haochen; Wong Sing-Wai; He Huiying; Zhang Xiaoxia; Wang Yue; Han Dong; Feng Hailan;

  • 作者单位

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Univ N Carolina Sch Dent Dept Periodontol Chapel Hill NC 27515 USA;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

    Peking Univ Dept Prosthodont Sch &

    Hosp Stomatol 22 Zhongguancun South Ave Beijing 100081;

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  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    anodontia; mutation; odonto-onycho-dermal dysplasia; tooth agenesis; WNT10A;

    机译：anoyontia;突变;Odonto-onycho-dermal发育不良;牙齿刺伤;Wnt10a;

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