Genetics of Nonsyndromic Microtia and Congenital Aural Atresia: A Scoping Review.

IF 2.6 3区 医学 Q1 OTORHINOLARYNGOLOGY Otolaryngology- Head and Neck Surgery Pub Date : 2024-12-03 DOI:10.1002/ohn.1060
Aparna Govindan, Carly Fiest, David W Chou, Mia Saade, Mingyang Gray, Maura Cosetti
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引用次数: 0

Abstract

Objective: To review the literature on genetics of nonsyndromic microtia and congenital aural atresia (CAA).

Data sources: Embase, Ovid (Medline), and Web of Science.

Review methods: The search was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for scoping reviews. Included studies were original research studies discussing the genetics or pattern of inheritance of non-syndromic microtia and/or CAA, defined as microtia and/or CAA that was completely isolated except for the presence of hearing loss.

Results: Thirty studies met inclusion criteria, describing 40 unique genes and one susceptibility gene locus (4p15.32-4p16.2) associated with nonsyndromic microtia, CAA, or microtia and CAA. The 3 most cited genes describing microtia genetics alone were HOXA2, MUC6, and GSC. A single article describing nonsyndromic CAA alone identified the TSHZ1 as a candidate gene. Among 194 subjects from 18 manuscripts describing mendelian inheritance for non-syndromic microtia or microtia and CAA, 49% of the individuals were found to have autosomal dominant transmission, 4% had autosomal recessive, 5% had X-linked recessive, and 42% had no reported pattern of inheritance.

Conclusion: Current literature on the genetics of microtia and CAA is largely derived from genetic analysis of syndromic patients. Despite comprising over half of the clinical population, available data on non-syndromic patients remains limited. Understanding genetic polymorphisms and their correlation to phenotypic data more readily available to otolaryngologists offers the prospect of categorizing severity of anatomic malformation and hearing loss to guide future intervention, and improve ability to provide patient- and family-centered counseling.

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来源期刊
Otolaryngology- Head and Neck Surgery
Otolaryngology- Head and Neck Surgery 医学-耳鼻喉科学
CiteScore
6.70
自引率
2.90%
发文量
250
审稿时长
2-4 weeks
期刊介绍: Otolaryngology–Head and Neck Surgery (OTO-HNS) is the official peer-reviewed publication of the American Academy of Otolaryngology–Head and Neck Surgery Foundation. The mission of Otolaryngology–Head and Neck Surgery is to publish contemporary, ethical, clinically relevant information in otolaryngology, head and neck surgery (ear, nose, throat, head, and neck disorders) that can be used by otolaryngologists, clinicians, scientists, and specialists to improve patient care and public health.
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