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@article{2267901,
author = {Slabá, Kateřina and Ježová, Marta and Pokorná, Petra and Pálová, Hana and Tučková, Jana and Papež, Jan and Procházková, Dagmar and Jabandžiev, Petr and Slabý, Ondřej},
article_location = {Hoboken},
article_number = {5},
doi = {http://dx.doi.org/10.1002/mgg3.2139},
keywords = {cardiac-urogenital syndrome; familiar occurrence; MYRF; gene; Scimitar syndrome; whole exome sequenci},
language = {eng},
issn = {2324-9269},
journal = {MOLECULAR GENETICS & GENOMIC MEDICINE},
title = {Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?},
url = {https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2139},
volume = {11},
year = {2023}
}
TY - JOUR
ID - 2267901
AU - Slabá, Kateřina - Ježová, Marta - Pokorná, Petra - Pálová, Hana - Tučková, Jana - Papež, Jan - Procházková, Dagmar - Jabandžiev, Petr - Slabý, Ondřej
PY - 2023
TI - Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
JF - MOLECULAR GENETICS & GENOMIC MEDICINE
VL - 11
IS - 5
SP - 1-7
EP - 1-7
PB - Wiley
SN - 23249269
KW - cardiac-urogenital syndrome
KW - familiar occurrence
KW - MYRF
KW - gene
KW - Scimitar syndrome
KW - whole exome sequenci
UR - https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2139
N2 - Background: Cardiac-urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function. MYRF is a transcription factor previously associated only with the control of myelin-related gene expression. However, it is also highly expressed in other tissues and associated with various organ anomalies. The clinical picture is primarily dominated by complex congenital cardiac developmental defects, pulmonary hypoplasia, congenital diaphragmatic hernia, and urogenital malformations. Case Presentation: We present case reports of two siblings of unrelated parents in whom whole-exome sequencing was indicated due to familial occurrence of extensive developmental defects. A new, previously undescribed splicing pathogenic variant c.1388+2T>G in the MYRF gene has been identified in both patients. Both parents are unaffected, tested negative, and have another healthy daughter. The identical de novo event in siblings suggests gonadal mosaicism, which can mimic recessive inheritance. Conclusions: To our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.
ER -
SLABÁ, Kateřina, Marta JEŽOVÁ, Petra POKORNÁ, Hana PÁLOVÁ, Jana TUČKOVÁ, Jan PAPEŽ, Dagmar PROCHÁZKOVÁ, Petr JABANDŽIEV and Ondřej SLABÝ. Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? \textit{MOLECULAR GENETICS \&{} GENOMIC MEDICINE}. Hoboken: Wiley, 2023, vol.~11, No~5, p.~1-7. ISSN~2324-9269. Available from: https://dx.doi.org/10.1002/mgg3.2139.
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