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Authors: Schönfeld, Mascha
Selig, Mareike
Russo, Alexandra
Lindner, Christine
Kampmann, Christoph
Mildenberger, Eva
Whybra, Catharina
Title: Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia
Online publication date: 29-Jun-2020
Year of first publication: 2020
Language: english
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.
DDC: 610 Medizin
610 Medical sciences
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 04 Medizin
Place: Mainz
URN: urn:nbn:de:hebis:77-publ-598884
Version: Published version
Publication type: Zeitschriftenaufsatz
License: CC BY-NC
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Journal: Molecular genetics & genomic medicine
Pages or article number: e1174
Publisher: Wiley
Publisher place: Chichester u.a.
Issue date: 2020
ISSN: 2324-9269
Publisher URL:
Publisher DOI: 10.1002/mgg3.1174
Appears in collections:JGU-Publikationen

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