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首页> 外文期刊>Italian journal of pediatrics >The recurrent SETBP1 c.2608G??A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
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The recurrent SETBP1 c.2608G??A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

机译：经常性SetBP1 C.2608G？> A，p。（Gly870ser）患者中的患者患者中的患者：一个危重的新生儿在批评性新生儿中整体测序效用的说明性情况

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Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as an increased pediatric cancer risk. Recently, SGS has been associated with de novo heterozygous deleterious variants in the SETBP1 gene; to date, nine different variants, clustering in exon 4 of SETBP1, have been identified in 25 patients. In this study, by using Whole Exome Sequencing (WES), we identified a patient with a recurrent missense mutation in SETBP1, the c.2608G??A, p.(Gly870Ser) variant, previously reported as likely pathogenic. This finding allowed us to confirm the suspected clinical diagnosis of SGS. Clinical features of patients carrying the same variant, including our patient, were evaluated by a review of medical records. Our study confirms SGS as a severe disorder potentially presenting at birth as a critically ill neonate and demonstrates the causal role of the c.2608G??A, p.(Gly870Ser) variant in the etiology of the syndrome. Moreover, although the cohort of SETBP1-patients reported in the literature is still small, our study reports for the first time the prevalence of the variant (about 27%, 7/26). Finally, given the heterogeneity of clinical presentations of affected patients hospitalized in Neonatal Intensive Care Units (NICU) and/or Pediatric Intensive Care Units (PICU), in agreement with emerging data from the literature, we suggest that WES should be used in the diagnosis of unexplained syndromic conditions, and even as part of a standard first-line diagnostic approach, as it would allow a better diagnosis, counseling and management of affected patients and their families.
机译：Schinzel-Giedion综合征（SGS）是一种多重畸形综合征，主要是具有严重的智力残疾，独特的面部特征和多个先天性异常，包括骨骼异常，泌尿病和肾畸形，心脏缺陷以及增加的儿科癌症风险。最近，SGS已经与setBP1基因中的Novo杂合子有害变体相关联;迄今为止，已在25例患者中鉴定了九种不同变体，在SetBP1的外显子4中的聚类。在这项研究中，通过使用全外膜测序（WES），我们在SetBP1中鉴定了一种患者，在SetBP1中，C.2608G？a，p。（Gly870ser）变体，以前称为致病性。这一发现允许我们确认SGS的疑似临床诊断。通过对病历的审查评估携带相同变体的患者患者的临床特征进行评估。我们的研究证实，SGS作为潜在的严重疾病，潜在地呈现出危重的新生儿，并证明了C.2608G的因果作用综合征中的病因中的C.2608G？A，p。（Gly870ser）变体。此外，虽然文献中报告的SetBP1患者的队列仍然很小，但我们的研究报告了第一次变体的患病率（约27％，7/26）。最后，鉴于在新生儿重症监护单位（NICU）和/或儿科重症监护单位（PICU）的受影响患者的临床介绍的异质性，与来自文献的新兴数据一致，我们建议您应该在诊断中使用WES不明原因的综合征条件，甚至作为标准一线诊断方法的一部分，因为它将允许受影响患者及其家属的更好的诊断，咨询和管理。

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