Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Mol Genet Genomic Med
; 11(5): e2139, 2023 05.
Article
em En
| MEDLINE
| ID: mdl-36695166
ABSTRACT
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Irmãos
/
Mosaicismo
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
República Tcheca