Goitia Veronica, Oquendo Marcial, Stratton Robert
Department of Pediatrics, Driscoll Children's Hospital, Corpus Christi, TX 78411, USA.
Department of Medical Genetics, Driscoll Children's Hospital, Corpus Christi, TX 78411, USA.
Case Rep Genet. 2015;2015:212436. doi: 10.1155/2015/212436. Epub 2015 Mar 29.
Introduction. More than 60 cases of 7p22 duplications and deletions have been reported with over 16 of them occurring without concomitant chromosomal abnormalities. Patient and Methods. We report a 29-month-old male diagnosed with autism. Whole genome chromosome SNP microarray (REVEAL) demonstrated a 1.3 Mb interstitial duplication of 7p22.1 ->p22.1 arr 7p22.1 (5,436,367-6,762,394), the second smallest interstitial 7p duplication reported to date. This interval included 14 OMIM annotated genes (FBXL18, ACTB, FSCN1, RNF216, OCM, EIF2AK1, AIMP2, PMS2, CYTH3, RAC1, DAGLB, KDELR2, GRID2IP, and ZNF12). Results. Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, cryptorchidism, speech delay, poor eye contact, and outburst of aggressive behavior with autism-like features. Among the genes located in the duplicated segment, ACTB gene has been proposed as a candidate gene for the alteration of craniofacial development. Overexpression of RNF216L has been linked to autism. FSCN1 may play a role in neurodevelopmental disease. Conclusion. Characterization of a possible 7p22.1 Duplication Syndrome has yet to be made. Recognition of the clinical spectrum in patients with a smaller duplication of 7p should prove valuable for determining the minimal critical region, helping delineate a better prediction of outcome and genetic counseling.
引言。已报道60多例7p22重复和缺失病例，其中超过16例不伴有染色体异常。患者与方法。我们报告一名29个月大被诊断为自闭症的男性。全基因组染色体SNP微阵列（REVEAL）显示7p22.1存在1.3 Mb的间质性重复 ->p22.1 arr 7p22.1(5,436,367 - 6,762,394)，这是迄今为止报道的第二小的间质性7p重复。该区间包含14个OMIM注释基因（FBXL18、ACTB、FSCN1、RNF216、OCM、EIF2AK1、AIMP2、PMS2、CYTH3、RAC1、DAGLB、KDELR2、GRID2IP和ZNF12）。结果。我们的患者表现出与先前报道的7p22重复病例相似的特征，包括短头畸形、耳朵突出、隐睾、语言发育迟缓、眼神交流差以及具有自闭症样特征的攻击性行为爆发。在重复片段中的基因中，ACTB基因被认为是颅面发育改变的候选基因。RNF216L的过表达与自闭症有关。FSCN1可能在神经发育疾病中起作用。结论。7p22.1重复综合征的特征尚未明确。认识7p较小重复患者的临床谱对于确定最小关键区域、帮助更好地预测预后和进行遗传咨询应具有重要价值。
