Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We report 12 additional patients from nine unrelated pedigrees with similar deletions. The deletions were inherited in nine out of 12 patients, suggesting variable expressivity and incomplete penetrance. Four patients had tiny deletions involving only EPHA7, suggesting a critical role of EPHA7 in a neurodevelopmental disability phenotype. We provide further evidence for EPHA7 deletion as a risk factor for neurodevelopmental disorder and delineate its clinical phenotype.

中文翻译：

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EPHA7 单倍体不足与神经发育障碍有关

肝配蛋白受体及其配体肝配蛋白在发育中的大脑中广泛表达。它们涉及对大脑发育至关重要的几个发育过程。在几种神经发育障碍中报告了编码 Eph/ephrin 受体家族成员的基因缺失。肝配蛋白受体 A7 基因 ( EPHA7 ) 编码蛋白酪氨酸激酶家族的肝配蛋白受体亚家族成员。EPHA7 在皮质生成过程中发挥作用，决定大脑的大小和形状，并参与中枢神经系统的发育。迄今为止，仅报告了一名患者出现了包含EPHA7的从头缺失在 6q16.1 中。我们报告了来自 9 个具有相似缺失的不相关谱系的另外 12 名患者。12 名患者中有 9 名遗传了缺失，这表明表达能力不同且外显率不完全。4 名患者有仅涉及EPHA7的微小缺失，表明EPHA7在神经发育障碍表型中的关键作用。我们为EPHA7缺失作为神经发育障碍的危险因素提供了进一步的证据，并描述了其临床表型。