Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00077890" target="_blank" >RIV/65269705:_____/23:00077890 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/23:00130465
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/epdf/10.1002/mgg3.2139" target="_blank" >https://onlinelibrary.wiley.com/doi/epdf/10.1002/mgg3.2139</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/mgg3.2139" target="_blank" >10.1002/mgg3.2139</a>
Alternative languages
Result language
angličtina
Original language name
Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Original language description
BackgroundCardiac-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 PresentationWe 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. ConclusionsTo our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10603 - Genetics and heredity (medical genetics to be 3)
Result continuities
Project
<a href="/en/project/LX22NPO5102" target="_blank" >LX22NPO5102: National institute for cancer research</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Genetics & Genomic Medicine
ISSN
2324-9269
e-ISSN
2324-9269
Volume of the periodical
11
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
—
UT code for WoS article
000922269300001
EID of the result in the Scopus database
2-s2.0-85147234084