Přehled o publikaci
2023
Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
SLABÁ, Kateřina, Marta JEŽOVÁ, Petra POKORNÁ, Hana PÁLOVÁ, Jana TUČKOVÁ et. al.Basic information
Original name
Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Authors
SLABÁ, Kateřina, Marta JEŽOVÁ, Petra POKORNÁ, Hana PÁLOVÁ, Jana TUČKOVÁ, Jan PAPEŽ, Dagmar PROCHÁZKOVÁ, Petr JABANDŽIEV and Ondřej SLABÝ
Edition
GENOMIC MEDICINE, Hoboken, Wiley, 2023, 2324-9269
Other information
Language
English
Type of outcome
Article in a journal
Country of publisher
United States of America
Confidentiality degree
is not subject to a state or trade secret
References:
Organization
Lékařská fakulta – Repository – Repository
UT WoS
000922269300001
EID Scopus
2-s2.0-85147234084
Keywords (in Czech)
kardio-urogenitalni syndrom; familialni vyskyt; MYRF; gen; Scimitar syndrom; celoexomove sekvenovani
Keywords in English
cardiac-urogenital syndrome; familiar occurrence; MYRF; gene; Scimitar syndrome; whole exome sequenci
Links
LX22NPO5102, research and development project.
Changed: 9/3/2024 03:34, RNDr. Daniel Jakubík
V originále
gt;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.
In Czech
gt;G v genu MYRF byla identifikována u obou pacientů. Oba rodiče jsou nedotčeni, testy jsou negativní a mají další zdravou dceru. Identická událost de novo u sourozenců naznačuje gonadální mozaicismus, který může napodobovat recesivní dědičnost. Závěr: Pokud je nám známo, jedná se o první publikovaný případ familiárního kardio-urogenitálního syndromu indikujícího gonádový mosaicismus.
