Center of Laboratory Medicine, Cantonal Hospital, Aarau, Switzerland.
Am J Med Genet A. 2010 Feb;152A(2):434-7. doi: 10.1002/ajmg.a.33220.
We report on the clinical and cytogenetic findings and on the array-based characterization of an interstitial 7q11.21-q11.23 deletion initially recognized by standard karyotyping in a 15-month-old female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infantile spasms. Recently, it was reported that infantile spasms are associated with deletion of the MAGI2 gene on chromosome 7q11.23. Nevertheless, not all patients reported with deletions of MAGI2 developed infantile spasms and at least one reported patient with a deletion 7q11.23 without missing the MAGI2 gene was diagnosed with infantile spasms. Molecular karyotyping of our patient confirmed a large 13 Mb deletion encompassing the 7q11.21-q11.23 region without involvement of MAGI2. Critical review of published data and the results of our patient underline the importance to map precisely the deletion boundaries of further patients to reevaluate the significance of MAGI2 hemizygosity in the pathogenesis of infantile spasms.
我们报告了一名 15 个月大的女性患者，其通过标准核型分析发现存在 7q11.21-q11.23 号染色体间区的缺失。该患者在 3 个月零 2 周大时开始出现严重的婴儿痉挛。最近有报道称，婴儿痉挛与 7q11.23 号染色体 MAGI2 基因缺失有关。然而，并非所有报道的 MAGI2 缺失患者都出现婴儿痉挛，至少有一名报道的患者缺失了 7q11.23 区域但未缺失 MAGI2 基因，也被诊断为婴儿痉挛。我们患者的分子核型分析证实存在一个 13 Mb 的大片段缺失，涵盖了 7q11.21-q11.23 区域，但未涉及 MAGI2。对已发表数据的仔细审查和我们患者的结果强调了精确绘制进一步患者缺失边界的重要性，以便重新评估 MAGI2 半合子缺失在婴儿痉挛发病机制中的意义。
