Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant

Autor: Maryangel Perea‐Cabrera, Javier T. Granados‐Riveron, Begoña Segura‐Stanford, Liliana M. Moreno‐Vargas, Diego Prada‐Gracia, Mari C. Moran‐Espinosa, Julio Erdmenger, Hector Diaz‐Garcia, Rocío Sánchez‐Urbina
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Druh dokumentu: article
ISSN: 2324-9269
DOI: 10.1002/mgg3.2234
Popis: Abstract Background Opitz GBBB syndrome (GBBB) is an X‐linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias. Methods Targeted exome sequencing analysis of a 380‐gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated. Results We identified a NM_000381.4:c.608G>A;p.(Arg203Gln) change in MID1, affecting the conformation of the B‐box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported. Conclusion A new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.
Databáze: Directory of Open Access Journals
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