Cytokine gene variants/expressions and non-syndromic microtia	— is there a link?

Bekerecioğlu, Mehmet; Pehlıvan, Sacide; Sever, Tuğçe; Büyükgüral, Berker

doi:10.2399/jmu.2017002007

ENT Updates

2017

DOI: 10.2399/jmu.2017002007

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Cytokine gene variants/expressions and non-syndromic microtia — is there a link?

Mehmet Bekerecioğlu¹,

Sacide Pehlıvan²,

Tuğçe Sever³

et al.

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Cited by 4 publications

(1 citation statement)

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“…Characteristics of the studies of isolated microtia.1,9,17,22,41,46,[48][49][50][65][66][67][68][69][70][71][72]132,133 …”

mentioning

confidence: 99%

The role of genetic factors in microtia: A systematic review

Putri

Stephanie²,

Pramanasari³

et al. 2022

F1000Res

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Background: Microtia is a congenital malformation of the outer ears caused by improper embryonic development. The origin of microtia and causes of its variations remain unknown. Because of the lack of clarity regarding the role of genetic variables in microtia, we conducted a systematic review to qualitatively identify the genes most important in the development of microtia to provide an up-to-date review. Methods: Using six search engines, we searched all published studies related to the genetic factors of isolated microtia and syndromic microtia. The identified publications were screened and selected based on inclusion and exclusion criteria by the authors and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 studies, including 22 studies on syndromic microtia and 18 studies on isolated microtia. Data extraction of each study was arranged in tabulation for syndromic and isolated microtia. The extracted data were: first author’s surname, year of publication, country of origin, study design, sample characteristic and gene assessed. Results: After the data were extracted, analyzed, and reviewed, the most common gene suspected to be involved in isolated microtia was Homeobox A2 (HOXA2, 12.1%). Conversely, in syndromic microtia, the two most common genes supposed to play a role were Fibroblast Growth Factor 3 (FGF3, 47.2%) and Treacher–Collins–Franceschetti syndrome 1 (TCOF1, 30.2%). From the studies, the three most prevalent genes associated with microtia were HOXA2 (10%), FGF3 (8.4%), and TCOF1 (5.4%). In syndromic microtia, the most common mutation types were deletion in TCOF1 (46.9%) and missense and deletion in FGF3 (both 38%), and in isolated microtia, the most common mutation type was silent in HOXA2 (54.2%). Conclusions: In summary, genetic factors are involved in microtia; thus, molecular analysis is strongly advised. PROSPERO registration: CRD42021287294 (25/10/21).

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“…Characteristics of the studies of isolated microtia.1,9,17,22,41,46,[48][49][50][65][66][67][68][69][70][71][72]132,133 …”

mentioning

confidence: 99%

The role of genetic factors in microtia: A systematic review

Putri

Stephanie²,

Pramanasari³

et al. 2022

F1000Res

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

Govindan,

Fiest,

Chou

et al. 2024

Otolaryngol.--head neck surg.

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ObjectiveTo review the literature on genetics of nonsyndromic microtia and congenital aural atresia (CAA).Data SourcesEmbase, Ovid (Medline), and Web of Science.Review MethodsThe 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.ResultsThirty 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.ConclusionCurrent 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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The role of genetic factors in microtia: A systematic review

et al. 2022

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Cytokine gene variants/expressions and non-syndromic microtia — is there a link?

Cited by 4 publications

References 21 publications

The role of genetic factors in microtia: A systematic review

The role of genetic factors in microtia: A systematic review

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

The role of genetic factors in microtia: A systematic review

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