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 co...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.2234 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Maryangel Perea‐Cabrera |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T01:28:53Z |
| format | Article |
| id | doaj.art-ff3b89a49b444ee885443b6b405fec54 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-12T01:28:53Z |
| publishDate | 2023-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-ff3b89a49b444ee885443b6b405fec542023-09-12T09:57:07ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-09-01119n/an/a10.1002/mgg3.2234Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variantMaryangel Perea‐Cabrera0Javier T. Granados‐Riveron1Begoña Segura‐Stanford2Liliana M. Moreno‐Vargas3Diego Prada‐Gracia4Mari C. Moran‐Espinosa5Julio Erdmenger6Hector Diaz‐Garcia7Rocío Sánchez‐Urbina8Centro de Investigación en Malformaciones Congénitas Hospital Infantil de México Federico Gómez Mexico City MexicoCentro de Investigación en Malformaciones Congénitas Hospital Infantil de México Federico Gómez Mexico City MexicoDepartamento de Cardiología Hospital Infantil de México Federico Gómez Mexico City MexicoUnidad de Investigación en Biología Computacional y Diseño de Fármacos Hospital Infantil de México Federico Gómez Ciudad de México MexicoUnidad de Investigación en Biología Computacional y Diseño de Fármacos Hospital Infantil de México Federico Gómez Ciudad de México MexicoCentro de Investigación en Malformaciones Congénitas Hospital Infantil de México Federico Gómez Mexico City MexicoDepartamento de Cardiología Hospital Infantil de México Federico Gómez Mexico City MexicoCentro de Investigación en Malformaciones Congénitas Hospital Infantil de México Federico Gómez Mexico City MexicoCentro de Investigación en Malformaciones Congénitas Hospital Infantil de México Federico Gómez Mexico City MexicoAbstract 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.https://doi.org/10.1002/mgg3.2234congenital heart defectsOpitz GBBB syndrometotal anomalous pulmonary venous connection |
| spellingShingle | 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 Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant Molecular Genetics & Genomic Medicine congenital heart defects Opitz GBBB syndrome total anomalous pulmonary venous connection |
| title | Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant |
| title_full | Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant |
| title_fullStr | Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant |
| title_full_unstemmed | Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant |
| title_short | Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant |
| title_sort | opitz gbbb syndrome with total anomalous pulmonary venous connection a new mid1 gene variant |
| topic | congenital heart defects Opitz GBBB syndrome total anomalous pulmonary venous connection |
| url | https://doi.org/10.1002/mgg3.2234 |
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