口腔医学研究 ›› 2018, Vol. 34 ›› Issue (9): 995-997.DOI: 10.13701/j.cnki.kqyxyj.2018.09.018

• 口腔遗传学研究 • 上一篇    下一篇

无汗型外胚叶发育不全伴乳头发育不良家系遗传特点和表型分析

徐东伟,林垚*   

  1. 厦门医学院附属口腔医院 福建 厦门 361003
  • 收稿日期:2018-03-08 出版日期:2018-09-28 发布日期:2018-09-25
  • 通讯作者: 林垚,E-mail:23908162@qq.com
  • 作者简介:徐东伟(1971~ ),男,福建人,学士,副主任医师,主要从事牙体牙髓相关疾病研究。
  • 基金资助:
    厦门医学院校级课题(编号:K2016-40)

Phenotypic and Genetic Features Analysis of Hypohidrotic Ectodermal Dysplasia Pedigrees with Athelia.

XU Dong-wei, LIN Yao*.   

  1. Xiamen Stomatology Hospital, Hospital and School of Stomatoloy, Xiamen Medical University, Xiamen 361003, China.
  • Received:2018-03-08 Online:2018-09-28 Published:2018-09-25

摘要: 目的: 分析无汗型外胚叶发育不全(HED)伴乳头发育不良家系的遗传方式和表型特点。方法: 通过先证者收集法,收集HED伴乳头发育不良家系,详细体格检查确定患者表型。结果: 本研究收集到1个HED伴乳头发育不良家系,家系2名患者均为男性,表现为无汗、严重的先天缺牙(甚至无牙)、指甲发育不良伴弯曲、皮肤淀粉样变性和乳头发育不良等症状;家系女性成员无上述异常。家系遗传方式排除X连锁隐性遗传。结论: 本研究收集的HED伴乳头发育不良家系症状明显。

关键词: 无汗型外胚叶发育不全, 乳头发育不良, 家系调查, 先证者表型

Abstract: Objective: To analyze the genetic and clinical features of hypohidrotic ectodermal dysplasia (HED) pedigree with athelia. Methods: The pedigree was collected through proband reporting. The genetic and clinical characters were summarized through medical examination and pedigree analysis. Results: One HED family with athelia was reported in this study. Patients suffered with hypohidrosis, severe tooth agenesis, onychogryphosis, and nipple deformity. The inheritance mode excluded the X-linked recessive manner. Conclusion: The reported HED pedigree with athelia has typical clinical symptoms.

Key words: Hypoplastic ectodermal dysplasia , Athelia Pedigree investigation , Proband, Phenotype