Please use this identifier to cite or link to this item:
http://doi.org/10.25358/openscience-4935
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 |
ROR: | https://ror.org/023b0x485 |
DOI: | http://doi.org/10.25358/openscience-4935 |
URN: | urn:nbn:de:hebis:77-publ-598884 |
Version: | Published version |
Publication type: | Zeitschriftenaufsatz |
License: | CC BY-NC |
Information on rights of use: | https://creativecommons.org/licenses/by-nc/4.0/ |
Journal: | Molecular genetics & genomic medicine 8 5 |
Pages or article number: | e1174 |
Publisher: | Wiley |
Publisher place: | Chichester u.a. |
Issue date: | 2020 |
ISSN: | 2324-9269 |
Publisher URL: | http://dx.doi.org/10.1002/mgg3.1174 |
Publisher DOI: | 10.1002/mgg3.1174 |
Appears in collections: | JGU-Publikationen |