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Abstract：
BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients\' head and neck regions.
METHODS: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia.
RESULTS: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%).
CONCLUSIONS: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.
METHODS: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia.
RESULTS: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%).
CONCLUSIONS: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.
摘要：
背景：小耳畸形是一种先天性耳畸形，可以作为孤立的小耳畸形或作为综合征的一部分发生。目前对病因了解甚少,尽管有强有力的证据表明遗传学在小耳畸形的发生中起作用。本系统综述旨在确定小耳畸形患者头颈部的相关基因和异常。
方法：我们使用了七个搜索引擎来搜索所有已知的关于与微小发育或结果相关的遗传和表型变量的文献。根据纳入和排除标准筛选和选择已确定的出版物，并使用JoannaBriggs研究所（JBI）关键评估工具评估方法学质量。在这项系统评价中，我们发现了40篇论文，其中涉及1459例患者的microtia中的表型数据，以及30篇包含涉及microtia的遗传数据的文章。
结果：所有小骨症患者最常见的伴随表型是外耳道闭锁，而最常见的头颈部异常是耳廓，心理，和口腔区域。最常见的综合征是颅面微缩综合征。在综合征性小耳症组，最常见的基因是TCOF1（43.75%），SIX2（4.69%），和HSPA9（4.69％），而在非综合征性小耳畸形组中，最常见的基因是GSC外显子2（25％），FANCB（16.67%），HOXA2（8.33%），GSC外显子3（8.33%），MARS1（8.33%），和CDT1（8.33%）。
结论：我们的系统综述显示了一些与小耳发育有关的基因，包括TCOF1，SIX2，HSPA9，GSC外显子2，FANCB，HOXA2、GSC外显子3、MARS1和CDT1基因。我们还揭示了微小畸形中的基因型-表型关联。此外,需要进一步研究更完整和全面的数据，包括有关于综合征的完整数据的患者，表型，和基因型。
方法：我们使用了七个搜索引擎来搜索所有已知的关于与微小发育或结果相关的遗传和表型变量的文献。根据纳入和排除标准筛选和选择已确定的出版物，并使用JoannaBriggs研究所（JBI）关键评估工具评估方法学质量。在这项系统评价中，我们发现了40篇论文，其中涉及1459例患者的microtia中的表型数据，以及30篇包含涉及microtia的遗传数据的文章。
结果：所有小骨症患者最常见的伴随表型是外耳道闭锁，而最常见的头颈部异常是耳廓，心理，和口腔区域。最常见的综合征是颅面微缩综合征。在综合征性小耳症组，最常见的基因是TCOF1（43.75%），SIX2（4.69%），和HSPA9（4.69％），而在非综合征性小耳畸形组中，最常见的基因是GSC外显子2（25％），FANCB（16.67%），HOXA2（8.33%），GSC外显子3（8.33%），MARS1（8.33%），和CDT1（8.33%）。
结论：我们的系统综述显示了一些与小耳发育有关的基因，包括TCOF1，SIX2，HSPA9，GSC外显子2，FANCB，HOXA2、GSC外显子3、MARS1和CDT1基因。我们还揭示了微小畸形中的基因型-表型关联。此外,需要进一步研究更完整和全面的数据，包括有关于综合征的完整数据的患者，表型，和基因型。
