Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France.
Genetics Laboratory, CHRU Nancy, Nancy, France.
Front Immunol. 2019 Aug 16;10:1871. doi: 10.3389/fimmu.2019.01871. eCollection 2019.
We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from a balanced maternal translocation, with deletions of 7p22 and of 15q11 [arr[GRCh37] 7p22.3-p22.2(42976-3736851)x1, 15q11.1-q11.2(20172544-24979427)x1]. We used aCGH array, FISH, and karyotype for studying the phenotype of the two patients. The 7p22 deletion (3.5 Mb) contained 58 genes, including several OMIM genes. Patients 1 and 2 exhibited acquisition delays, morphological particularities, and hypogammaglobulinemia, which was more severe in patient 1. Patient 1 presented also with cerebral vasculitis. We discuss here how the PDGFa, CARD11, LFNG, GPER1, and MAFK genes, included in the deletion 7p22, could be involved in the clinical and biological features of the two patients.
我们在此报告两例新的家族性 del15q11 和 del7p22 相关病例，后者强调了这种缺失的临床变异性。两名同胞患者表现出相似的家族性不平衡易位，源自平衡的母系易位，7p22 和 15q11 缺失[arr[GRCh37] 7p22.3-p22.2(42976-3736851)x1, 15q11.1-q11.2(20172544-24979427)x1]。我们使用 aCGH 阵列、FISH 和核型分析研究了这两个患者的表型。7p22 缺失（3.5 Mb）包含 58 个基因，包括几个 OMIM 基因。患者 1 和 2表现出获得性延迟、形态学特征和低丙种球蛋白血症，患者 1 的情况更严重。患者 1还患有脑血管炎。我们在此讨论了包含在 7p22 缺失中的 PDGFa、CARD11、LFNG、GPER1 和 MAFK 基因如何参与这两个患者的临床和生物学特征。
