Opitz GBBB 综合征合并完全性肺静脉异位连接：一种新的 MID1 基因突变。
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
机构信息
Centro de Investigación en Malformaciones Congénitas, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.
Departamento de Cardiología, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.
出版信息
Mol Genet Genomic Med. 2023 Sep;11(9):e2234. doi: 10.1002/mgg3.2234. Epub 2023 Jul 27.
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.
背景
Opitz GBBB 综合征（GBBB）是一种 X 连锁疾病，其特征为中线缺陷，包括先天性心脏缺陷。我们报告了在一个有亲缘关系的家庭中，通过鉴定 GBBB 的方法，该家庭中有两名男性兄弟存在肺静脉总异常连接和轻微的面部畸形。
方法
对先证者进行了与心血管疾病相关的 380 个基因panel 的靶向外显子组测序分析。对外显子结果进行了解释性分析，并生成了蛋白质变化的 3D 模型。
结果
我们发现 MID1 中的 NM_000381.4:c.608G>A;p.(Arg203Gln) 变化，该变化影响蛋白质的 B 盒 2 结构域的构象，具有锌指结构和相关的蛋白质相互作用。这种临床表型与 GBBB 一致；然而，在这种情况下观察到的先天性心脏病类型以前没有报道过。
结论
发现 MID1 c.608G>A 的新的可能致病性变异与 Opitz GBBB 综合征有关。
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