<br>扩大 2p11.2-p12 微缺失综合征的基因型/表型相关性,Genes

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扩大 2p11.2-p12 微缺失综合征的基因型/表型相关性
Genes ( IF 2.8 ) Pub Date : 2023-12-16 , DOI: 10.3390/genes14122222
Alessandra Ferrario ₁ , Nijas Aliu ₂ , Claudine Rieubland ₂ , Sébastian Vuilleumier ₁ , Hilary M. Grabe ₁ , Pascal Escher _{1,

3}

Affiliation

2 号染色体短臂 p11.2 区域的染色体异常与发育迟缓、智力障碍、面部异常、耳朵异常、骨骼和生殖器畸形有关。在这里，我们描述了一名在 2 号染色体短臂 p11.2-p12 区域存在从头间质杂合微缺失的患者。他表现出面部畸形，其特征是鼻根宽而低，耳朵位置低且突出。随访期间的临床检查显示先天性摆动性眼球震颤、视力下降和包括智力障碍在内的精神运动发育障碍。通过阵列 CGH（比较基因组杂交）分析来表征杂合 5 Mb 微缺失。在过去的二十年中，通过阵列CGH分析鉴定出9名该区域存在微缺失的患者，并在文献中进行了报道。所有这些患者均表现出精神运动发育障碍以及外耳和/或内耳异常。此外，大多数患者有轻度至重度智力障碍，并表现出面部畸形。我们使用基因/位点名称作为搜索词回顾了 PubMed 和 OMIM 上的文献，试图识别位于杂合微缺失内的基因与患者临床表型之间的相关性，以便定义 2p11.2p12 的可识别表型微缺失综合征。我们讨论了并非所有患者都系统存在的其他症状，这些症状导致了这种微缺失综合征的异质性临床表现。

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Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability. The heterozygous 5 Mb-microdeletion was characterized by an array CGH (Comparative Genomic Hybridization) analysis. In the past two decades, nine patients with microdeletions in this region have been identified by array CGH analysis and were reported in the literature. All these patients show psychomotor development disorder and outer and/or inner ear anomalies. In addition, most of the patients have mild to severe intellectual disability and show facial malformations. We reviewed the literature on PubMed and OMIM using the gene/loci names as search terms in an attempt to identify correlations between genes located within the heterozygous microdeletion and the clinical phenotype of the patient, in order to define a recognizable phenotype for the 2p11.2p12 microdeletion syndrome. We discuss additional symptoms that are not systematically present in all patients and contribute to a heterogeneous clinical presentation of this microdeletion syndrome.

更新日期：2023-12-16

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