Autoren:	Schönfeld, Mascha Selig, Mareike Russo, Alexandra Lindner, Christine Kampmann, Christoph Mildenberger, Eva Whybra, Catharina
Titel:	Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia
Online-Publikationsdatum:	29-Jun-2020
Erscheinungsdatum:	2020
Sprache des Dokuments:	Englisch
Zusammenfassung/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-Sachgruppe:	610 Medizin 610 Medical sciences
Veröffentlichende Institution:	Johannes Gutenberg-Universität Mainz
Organisationseinheit:	FB 04 Medizin
Veröffentlichungsort:	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
Publikationstyp:	Zeitschriftenaufsatz
Nutzungsrechte:	CC BY-NC
Informationen zu den Nutzungsrechten:	https://creativecommons.org/licenses/by-nc/4.0/
Zeitschrift:	Molecular genetics & genomic medicine 8 5
Seitenzahl oder Artikelnummer:	e1174
Verlag:	Wiley
Verlagsort:	Chichester u.a.
Erscheinungsdatum:	2020
ISSN:	2324-9269
URL der Originalveröffentlichung:	http://dx.doi.org/10.1002/mgg3.1174
DOI der Originalveröffentlichung:	10.1002/mgg3.1174
Enthalten in den Sammlungen:	JGU-Publikationen