Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia. Issue 5 (7th March 2020)

• Record Type: Journal Article
• Authors: Schönfeld, Mascha; Selig, Mareike; Russo, Alexandra; Lindner, Christine; Kampmann, Christoph; Mildenberger, Eva; Whybra, Catharina
• Is Part Of: Molecular genetics & genomic medicine. Volume 8:Issue 5(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-03-07
• Subjects: hydrops panel -- next‐generation sequencing -- nonimmune hydrops fetalis -- Noonan syndrome -- rare variant; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1174
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: 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. Abstract : Nonimmunological hydrops fetalis (NIHF) is still a challenging diagnosis. The success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. We report a premature with NIHF. The hydrops panel revealed Noonan syndrome (NS) with a mutation in PTPN11 c.218C>T (p.Thr73Ile). 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.