Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury
Background: Male EBP disorder with neurologic defects (MEND) syndrome is an X‐linked disease caused by hypomorphic mutations in the EBP (emopamil‐binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation. Methods: We studied four males...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media
2021
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| Online Access: | http://eprints.uanl.mx/29897/1/29897.pdf |
| _version_ | 1838551025157406720 |
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| author | Mohamed Noriega, Karim Treviño Herrera, Alan Bる Mohamed Noriega, Jibran Velasco Sepúlveda, Braulio H. Martínez Pacheco, Víctor A. Guevara Villarreal, Dante A. Rodríguez Medellín, Delia L. Sepúlveda Salinas, Anna G. Villarreal Méndez, Gerardo González Cortés, Jesús H. Elizondo Omaña, Rodrigo E. Guzmán López, Santos Mohamed Hamsho, Jesús |
| author_facet | Mohamed Noriega, Karim Treviño Herrera, Alan Bる Mohamed Noriega, Jibran Velasco Sepúlveda, Braulio H. Martínez Pacheco, Víctor A. Guevara Villarreal, Dante A. Rodríguez Medellín, Delia L. Sepúlveda Salinas, Anna G. Villarreal Méndez, Gerardo González Cortés, Jesús H. Elizondo Omaña, Rodrigo E. Guzmán López, Santos Mohamed Hamsho, Jesús |
| author_sort | Mohamed Noriega, Karim |
| collection | Repositorio Institucional |
| description | Background: Male EBP disorder with neurologic defects (MEND) syndrome is an X‐linked disease caused by hypomorphic mutations in the EBP (emopamil‐binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation.
Methods: We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome. To identify candidate modifier genes that explain the phenotypic variability, variants of homeostasis cholesterol genes identified by whole‐exome sequencing (WES) were ranked according to the predicted magnitude of their effect through an in‐house scoring system.
Results: Twenty‐seven from 105 missense variants found in 45 genes of the four exomes were considered significant (−5 to −9 scores). We found a direct genotype–phenotype association based on the differential accumulation of potentially functional gene variants among males. Patient 1 exhibited 17 variants, both Patients 2 and 3 exhibited nine variants, and Patient 4 exhibited only five variants.
Conclusion: We conclude that APOA5 (rs3135506), ABCA1 (rs9282541), and APOB (rs679899 and rs12714225) are the most relevant candidate modifier genes in this family. Relative accumulation of the deficiencies associated with variants of these genes along with other lesser deficiencies in other genes appears to explain the variable expressivity in MEND syndrome. |
| format | Article |
| id | eprints-29897 |
| institution | UANL |
| language | English |
| publishDate | 2021 |
| publisher | Frontiers Media |
| record_format | eprints |
| spelling | eprints-298972025-07-04T17:19:40Z http://eprints.uanl.mx/29897/ Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury Mohamed Noriega, Karim Treviño Herrera, Alan Bる Mohamed Noriega, Jibran Velasco Sepúlveda, Braulio H. Martínez Pacheco, Víctor A. Guevara Villarreal, Dante A. Rodríguez Medellín, Delia L. Sepúlveda Salinas, Anna G. Villarreal Méndez, Gerardo González Cortés, Jesús H. Elizondo Omaña, Rodrigo E. Guzmán López, Santos Mohamed Hamsho, Jesús Background: Male EBP disorder with neurologic defects (MEND) syndrome is an X‐linked disease caused by hypomorphic mutations in the EBP (emopamil‐binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation. Methods: We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome. To identify candidate modifier genes that explain the phenotypic variability, variants of homeostasis cholesterol genes identified by whole‐exome sequencing (WES) were ranked according to the predicted magnitude of their effect through an in‐house scoring system. Results: Twenty‐seven from 105 missense variants found in 45 genes of the four exomes were considered significant (−5 to −9 scores). We found a direct genotype–phenotype association based on the differential accumulation of potentially functional gene variants among males. Patient 1 exhibited 17 variants, both Patients 2 and 3 exhibited nine variants, and Patient 4 exhibited only five variants. Conclusion: We conclude that APOA5 (rs3135506), ABCA1 (rs9282541), and APOB (rs679899 and rs12714225) are the most relevant candidate modifier genes in this family. Relative accumulation of the deficiencies associated with variants of these genes along with other lesser deficiencies in other genes appears to explain the variable expressivity in MEND syndrome. Frontiers Media 2021-11-21 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/29897/1/29897.pdf http://eprints.uanl.mx/29897/1.haspreviewThumbnailVersion/29897.pdf Mohamed Noriega, Karim y Treviño Herrera, Alan Bる y Mohamed Noriega, Jibran y Velasco Sepúlveda, Braulio H. y Martínez Pacheco, Víctor A. y Guevara Villarreal, Dante A. y Rodríguez Medellín, Delia L. y Sepúlveda Salinas, Anna G. y Villarreal Méndez, Gerardo y González Cortés, Jesús H. y Elizondo Omaña, Rodrigo E. y Guzmán López, Santos y Mohamed Hamsho, Jesús (2021) Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury. Frontiers in Medicine, 8. ISSN 2296-858X doi:10.3389/fmed.2021.697585 |
| spellingShingle | Mohamed Noriega, Karim Treviño Herrera, Alan Bる Mohamed Noriega, Jibran Velasco Sepúlveda, Braulio H. Martínez Pacheco, Víctor A. Guevara Villarreal, Dante A. Rodríguez Medellín, Delia L. Sepúlveda Salinas, Anna G. Villarreal Méndez, Gerardo González Cortés, Jesús H. Elizondo Omaña, Rodrigo E. Guzmán López, Santos Mohamed Hamsho, Jesús Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| title_full | Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| title_fullStr | Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| title_full_unstemmed | Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| title_short | Relationship of neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| title_sort | relationship of neutrophil to lymphocyte and platelet to lymphocyte ratio with visual acuity after surgical repair of open globe injury |
| url | http://eprints.uanl.mx/29897/1/29897.pdf |
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