Oculo‐auriculo‐vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis defect of the first and second pharyngeal arches. Etiology includes unknown genetic, environmental factors and chromosomal alterations, which 22q11.2 region is the most frequently reported. Several candidate genes for OAVS have been proposed; however, none has been confirmed as causative of the phenotype. This review aims to sum up all clinical and molecular findings in 22q region of individuals diagnosed with OAVS and to investigate genes that may be involved in the development of the spectrum. A search was performed in PubMed using all entry terms to OAVS and Chromosome 22q11. After screening, 11 papers were eligible for review. Deletions and duplications in the q11.2 region were the most frequent (18/22) alterations reported and a total of 68 genes were described. Our systematic review reinforces the hypothesis that 22q11 region is a candidate locus for OAVS as well as CLTCL1, GSC2, HIRA, MAPK1, TBX1, and YPEL1 as potential candidates genes for genotype–phenotype correlation. Complementary studies regarding genes interaction involved in the 22q11 region are still necessary in the search for a genotype–phenotype association, since the diagnosis of OAVS is a constant medical challenge.

中文翻译：

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22q区域眼动听觉脊椎频谱候选基因：系统综述。

眼-耳-椎体频谱（半脸细小体症/ OAVS，OMIM＃164210）是由第一和第二咽弓的形态发生缺陷引起的异质性和先天性疾病。病因包括未知的遗传，环境因素和染色体改变，其中22q11.2区域是最常报道的。已经提出了几种OAVS的候选基因。然而，没有一个被确认为表型的病因。这篇综述旨在总结诊断为OAVS的个体在22q区域的所有临床和分子发现，并调查可能与光谱发展有关的基因。在PubMed中使用OAVS和22q11染色体的所有输入词进行了搜索。筛选后，有11篇论文符合审查条件。q11中的删除和重复。2个区域是最频繁报道的（18/22）改变，共描述了68个基因。我们的系统评价进一步证实了22q11区域是OAVS的候选基因座以及CLTCL1，GSC2，HIRA，MAPK1，TBX1和YPEL1作为基因型与表型相关的潜在候选基因。在寻找基因型与表型的关联时，仍需要对22q11区域中涉及的基因相互作用进行补充研究，因为OAVS的诊断一直是医学上的挑战。