The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.

中文翻译：

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CDCA7和HELLS中的突变会导致免疫缺陷-着丝粒不稳定性-面部异常综合征。

威胁生命的免疫缺陷，着丝粒不稳定性和面部异常（ICF）综合征是遗传异源性常染色体隐性遗传疾病。20％的患者无法用已知的ICF基因DNA甲基转移酶3B或含锌指和BTB结构域中的24个突变进行解释。在这里，我们报道了10个原因不明的ICF中与7相关的细胞分裂周期突变和解旋酶，淋巴样特异性基因。案件。我们的数据突出了ICF综合征的遗传异质性。然而，它们提供了证据，表明所有基因都以共同或会聚的途径起作用，从而导致了ICF表型。