Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

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Authors

SLABÁ Kateřina JEŽOVÁ Marta POKORNÁ Petra PÁLOVÁ Hana TUČKOVÁ Jana PAPEŽ Jan PROCHÁZKOVÁ Dagmar JABANDŽIEV Petr SLABÝ Ondřej

Year of publication 2023
Type Article in Periodical
Magazine / Source MOLECULAR GENETICS & GENOMIC MEDICINE
MU Faculty or unit

Faculty of Medicine

Citation
Web https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2139
Doi http://dx.doi.org/10.1002/mgg3.2139
Keywords cardiac-urogenital syndrome; familiar occurrence; MYRF; gene; Scimitar syndrome; whole exome sequenci
Attached files
Description 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.
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