亚当斯-奥利弗综合征：残留尾及遗传学新进展

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update.

作者信息

Zhu Victor Z, Hansen-Kiss Emily, Hecht Jacqueline T, Payne Phileemon E

机构信息

Division of Plastic Surgery, Department of Surgery, University of Texas Medical Branch, Galveston, Texas.

University of Texas Health Science Center School of Dentistry, Houston, Texas.

出版信息

Arch Plast Surg. 2022 Jul 30;49(4):517-522. doi: 10.1055/s-0042-1751107. eCollection 2022 Jul.

DOI:10.1055/s-0042-1751107

PMID:35919556

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9340189/

Abstract

Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.

摘要

亚当斯-奥利弗综合征是一种公认的常染色体显性疾病，六个基因的突变是其病因，但仅占病例的三分之一。我们报告了一名患有两种遗传疾病的患者；亚当斯-奥利弗综合征和Xp22.33缺失综合征，以及一条残留的假尾。此前在这两种遗传疾病中均未报告过假尾的存在。亚当斯-奥利弗综合征缺乏分子病因，这证实还有其他遗传原因有待确定。