Jang Dae-Hyun, Chae Hyojin, Kim Myungshin
Department of Rehabilitation, Incheon St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Am J Med Genet A. 2015 Sep;167A(9):2213-8. doi: 10.1002/ajmg.a.37119. Epub 2015 Apr 21.
We describe the fourth reported case of a de novo 2q33.3-q34 interstitial deletion and review the literature in attempt to identify relevant candidate genes. A 15-month-old female patient presented for evaluation with poor eye contact and developmental delay. She had microcephaly and mild dysmorphic features, such as downslanting palpebral fissures, high forehead, small mouth, high palate, and general hypotonia. At 30 months of age, she was referred to the genetic clinic for an evaluation of persistent developmental delay, autistic traits, and Rett-like features, including bruxism and repetitive movement of the left hand. Chromosome analysis revealed 46,XX at the 550 band level. No abnormalities were found on analysis of MECP2 gene for Rett syndrome and a DNA methylation test for Prader-Willi syndrome. An array comparative genomic hybridization analysis revealed a de novo 2q33.3-q34 heterozygous deletion (206,048,173-211,980,867). The deletion was estimated to be 5.9 Mb in size and contained 34 known genes. Candidate genes were identified as NRP2, ADAM23, KLF7, CREB1, MAP2, UNC80, and LANCL1 for the 2q33.3-q34 interstitial deletion.
我们描述了第四例新发现的2q33.3-q34间质性缺失病例，并回顾了相关文献以试图确定相关候选基因。一名15个月大的女性患者因眼神交流差和发育迟缓前来评估。她有小头畸形和轻度畸形特征，如下斜睑裂、高额、小嘴、高腭和全身肌张力减退。30个月大时，她被转诊至遗传门诊，以评估持续性发育迟缓、自闭症特征和类瑞特综合征特征，包括磨牙症和左手重复性动作。染色体分析在550条带水平显示为46,XX。对瑞特综合征的MECP2基因分析和普拉德-威利综合征的DNA甲基化检测均未发现异常。阵列比较基因组杂交分析显示存在新的2q33.3-q34杂合缺失（206,048,173-211,980,867）。该缺失估计大小为5.9 Mb，包含34个已知基因。对于2q33.3-q34间质性缺失，候选基因被确定为NRP2、ADAM23、KLF7、CREB1、MAP2、UNC80和LANCL1。
