Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
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DOI：
10.1002/ajmg.a.35486
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发表时间：
2012-08
影响因子：
2
通讯作者：
Brunetti-Pierri, Nicola
中科院分区：
文献类型：
--
作者：
Cerbone, Manuela;Wang, Jun;Van der Maarel, Silvere M.;D'Amico, Alessandra;D'Agostino, Antonio;Romano, Alfonso;Brunetti-Pierri, Nicola
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，表现为继发于低丙种球蛋白血症或无丙种球蛋白血症、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标志，其由与基因组甲基化缺陷相关的靶向染色体重排引起。我们描述了一个病人携带的ZBTB24基因，这已被证明是最近负责ICF综合征2型纯合突变。我们的病人表现为智力障碍，多发性咖啡牛奶斑和一个大的脑蛛网膜囊肿。虽然检测到免疫功能受损的实验室体征，如血清IgM降低，但我们的患者没有出现免疫缺陷的临床表现。到目前为止，在ICF综合征中尚未报道脑畸形，可以推测ZBTB24突变可能会改变脑发育。然而，我们不能排除脑囊肿的存在是一个巧合。总之，我们的患者说明免疫缺陷的临床证据不是ICF2综合征2型的普遍特征，并表明脑畸形可能存在于其他ICF病例中。
The Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agammaglobulinemia, 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 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.
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影响因子：
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作者：
Hagleitner, M. M.;Lankester, A.;Weemaes, C. M. R.
通讯作者：
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影响因子：
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作者：
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通讯作者：
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