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首页> 外文期刊>Case Reports in Genetics >Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism
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Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism

机译：全基因组微阵列（REVEAL）检测到7p22.1微复制在孤独症诊断为儿童的检查中的案例

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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,ACTBgene has been proposed as a candidate gene for the alteration of craniofacial development. Overexpression ofRNF216Lhas 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
机译：介绍。已报告了60多例7p22重复和缺失的病例，其中16例发生了重复，而没有伴随染色体异常。我们报告了一名患有自闭症的29个月大的男性。全基因组染色体SNP微阵列（REVEAL）证明了1.3pMb的间质重复7p22.1-> p22.1 arr 7p22.1（5,436,367–6,762,394），是迄今为止报道的第二小的间质7p复制。该间隔包括14个OMIM注释的基因（FBXL18，ACTB，FSCN1，RNF216，OCM，EIF2AK1，AIMP2，PMS2，CYTH3，RAC1，DAGLB，KDELR2，GRID2IP和ZNF12）。我们的患者表现出与先前报道的7p22重复病例相似的特征，包括头畸形，耳朵突出，隐睾，言语延迟，不良眼神交流以及具有自闭症样特征的攻击行为爆发。在位于重复区段中的基因中，ACTB基因已被提议作为改变颅面发育的候选基因。 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。可能的7p22.1复制综合征的特征尚未确定。重复7p较小的患者对临床频谱的识别对于确定最小关键区域，有助于更好地预测结局和遗传咨询具有重要意义。

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