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Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-03-07 , DOI: 10.1002/mgg3.1174 Mascha Schönfeld 1 , Mareike Selig 2 , Alexandra Russo 3 , Christine Lindner 4 , Christoph Kampmann 5 , Eva Mildenberger 1 , Catharina Whybra 1
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-03-07 , DOI: 10.1002/mgg3.1174 Mascha Schönfeld 1 , Mareike Selig 2 , Alexandra Russo 3 , Christine Lindner 4 , Christoph Kampmann 5 , Eva Mildenberger 1 , Catharina Whybra 1
Affiliation
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BACKGROUND
Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in question was delivered via emergency cesarean at 30 + 1 weeks of gestational age (GA) due to rapidly developing NIHF to a healthy mother. The family history was noncontributory.
METHODS
DNA of the family was extracted and sequenced by the virtual hydrops panel with whole-exome sequencing.
RESULTS
The hydrops panel revealed Noonan syndrome (NS) with a germline mutation in PTPN11 c.218C>T (p.Thr73Ile).
CONCLUSION
The diagnosis of our patient was rapidly confirmed by the hydrops panel. The variant of c.218C>T (p.Thr73Ile) has not yet been described in literature relating to NIHF. Only a few case reports of this variant are known. This particular mutation is associated with Noonan syndrome, congenital heart defect and persistent thrombocytopenia. Few reveal juvenile myelomonocytic leukemia.
中文翻译：
通过积水检查小组快速检测具有PTPN11突变（p.Thr73Ile）和持续性血小板减少症的Noonan综合征。
背景技术胎儿非免疫性积水（NIHF）仍然是具有挑战性的诊断。鉴别诊断是广泛的，确定原因的成功取决于建立诊断的努力的彻底性。为了早期诊断NIHF，开发了一种虚拟的基因组诊断工具。由于快速向健康母亲发展NIHF，因此该女性早产儿在30 + 1周胎龄（GA）时通过紧急剖宫产分娩。家族史无贡献。方法提取该家族的DNA，并通过全外显子组测序通过虚拟水肿小组进行测序。结果积水专家组发现Noonan综合征（NS），PTPN11 c.218C> T（p.Thr73Ile）有种系突变。结论积水专家组迅速确认了我们患者的诊断。c.218C> T的变体（p。在有关NIHF的文献中尚未对此进行描述。该变体的案例报道很少。这种特殊的突变与Noonan综合征，先天性心脏缺陷和持续性血小板减少症有关。很少发现少年粒细胞性白血病。
更新日期：2020-03-07
中文翻译：
通过积水检查小组快速检测具有PTPN11突变（p.Thr73Ile）和持续性血小板减少症的Noonan综合征。
背景技术胎儿非免疫性积水（NIHF）仍然是具有挑战性的诊断。鉴别诊断是广泛的，确定原因的成功取决于建立诊断的努力的彻底性。为了早期诊断NIHF，开发了一种虚拟的基因组诊断工具。由于快速向健康母亲发展NIHF，因此该女性早产儿在30 + 1周胎龄（GA）时通过紧急剖宫产分娩。家族史无贡献。方法提取该家族的DNA，并通过全外显子组测序通过虚拟水肿小组进行测序。结果积水专家组发现Noonan综合征（NS），PTPN11 c.218C> T（p.Thr73Ile）有种系突变。结论积水专家组迅速确认了我们患者的诊断。c.218C> T的变体（p。在有关NIHF的文献中尚未对此进行描述。该变体的案例报道很少。这种特殊的突变与Noonan综合征，先天性心脏缺陷和持续性血小板减少症有关。很少发现少年粒细胞性白血病。
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