ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation
ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation
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DOI：
10.1002/ajmg.a.30135
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发表时间：
2004-09-01
影响因子：
2
通讯作者：
Kajii, T
中科院分区：
文献类型：
--
作者：
Kubota, T;Furuumi, H;Kajii, T
一个3岁的女孩与表型和细胞遗传学表现的ICF综合征和DNA低甲基化，但没有DNMT 3B基因突变的描述。在3个月大的时候，她有一个呼吸暂停的咒语，使她痉挛性截瘫和严重的智力迟钝。在8个月大时，她患上了脑膜炎球菌性脑膜炎和败血症。当我们在她3岁时看到她的男性化时，她有一个裂板，巨舌症和房间隔缺损。从右肾上腺皮质手术切除腺瘤。她的血清免疫球蛋白水平是正常的，除了伊加在正常下限。她的淋巴细胞在7%的中期分裂相中显示出1号和16号染色体的近着丝粒伸展，在1%的细胞中显示出涉及这些染色体的多辐射图。用BstBI消化观察到经典卫星2 DNA的低甲基化，但程度低于具有已证实的DNMT 3B突变的个体。在该基因的编码区和启动子区未发现突变。考虑了几种替代解释来解释低频率的染色体不稳定性和较低程度的DNA低甲基化，以及未检测到的DNA 3B突变。突变可能存在于基因中但未检测到，存在于其他DNA甲基转移酶（DNMT）基因或DNMT相关蛋白基因中。(C)2004威利-利斯公司
A 3-year-old girl with phenotypic and cytogenetic manifestations of the ICF syndrome and DNA hypomethylation but without DNMT3B gene mutation is described. At age 3 months, she had an apneic spell that left her with spastic paraplegia and severe mental retardation. At age 8 months, she suffered meningococcal meningitis and sepsis. When seen by us at age 3 years with virilization, she had a cleft plate, macroglossia, and an atrial septal defect. An adenoma was surgically removed from the right adrenal cortex. Her serum immunoglobulin levels were normal except IgA at the low normal border. Her lymphocytes showed paracentromeric stretching of chromosomes 1 and 16 in 7% of metaphases, and multiradial figures involving these chromosomes in 1% of cells. Hypomethylation of classical satellite 2 DNA was observed with BstBI digestion, but in a lesser degree than those in the individuals with proven DNMT3B mutations. No mutation was found in the coding and promoter regions of the gene. Several alternative interpretations were considered to explain the low frequencies of chromosomal instabilities and the lower degree of DNA hypomethylation, and undetected DNA3B mutations. A mutation may be present in the gene but undetected, present in other DNA methyltransferases (DNMT) genes or in a DNMT-associated protein gene. (C) 2004 Wiley-Liss, Inc.