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

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 associat

SUBMITTER: Perea-Cabrera M 

PROVIDER: S-EPMC10496055 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature