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首页> 外文期刊>American journal of medical genetics, Part A >Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

机译：ZBTB24突变导致免疫缺陷，着丝粒不稳定，面部异常（ICF）综合征，并伴有大的脑囊肿

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摘要

The immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agamma-globulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark of the disorder which results from targeted chromosomal rearrangements related to a genomic methylation defect. We describe a patient carrying a homozygous mutation of the ZBTB24 gene, which has been recently shown to be responsible for ICF syndrome type 2. Our patient presented with intellectual disability, multiple café-au-lait spots, and a large cerebral arachnoidal cyst. Although laboratory signs of impaired immune function, such as reduced serum IgM were detected, our patient did not present clinical manifestations of immunodeficiency. Brain malformations abnormalities have not been reported so far in ICF syndrome and it can be speculated that ZBTB24 mutations may alter cerebral development. Nevertheless, we cannot rule out that the presence of the cerebral cyst in the patient is coincidental. In summary, our patient illustrates that clinical evidence of immunodeficiency is not a universal feature of ICF2 syndrome type 2 and suggests that brain malformations may be present in other ICF cases.
机译：免疫缺陷，着丝粒不稳定，面部异常（ICF）综合征是一种常染色体隐性遗传疾病，表现为继发于低血球或γ-球蛋白血症，发育迟缓和面部异常的免疫缺陷。着丝粒不稳定性是该疾病的细胞遗传学特征，其是由与基因组甲基化缺陷有关的定向染色体重排引起的。我们描述了一个携带ZBTB24基因纯合突变的患者，该突变最近被证实与2型ICF综合征有关。该患者表现为智力残疾，多个咖啡色斑点和一个大的脑蛛网膜囊肿。尽管检测到免疫功能受损的实验室体征，例如血清IgM降低，但我们的患者并未表现出免疫缺陷的临床表现。迄今为止，尚未在ICF综合征中报道过脑畸形异常，可以推测ZBTB24突变可能会改变脑发育。然而，我们不能排除患者脑囊肿的存在是偶然的。总而言之，我们的患者说明免疫缺陷的临床证据不是2型ICF2综合征的普遍特征，并提示其他ICF病例中可能存在脑畸形。

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