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The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions

The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a hypothesis that SOX9 and its interactions may play a key role in this pathogenesis. The current review aims to test this hypothesis....

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Autores principales: Al-Qattan, Mohammad M., Almohrij, Saad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8994080/
https://www.ncbi.nlm.nih.gov/pubmed/35415063
http://dx.doi.org/10.1097/GOX.0000000000004241
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author Al-Qattan, Mohammad M.
Almohrij, Saad A.
author_facet Al-Qattan, Mohammad M.
Almohrij, Saad A.
author_sort Al-Qattan, Mohammad M.
collection PubMed
description The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a hypothesis that SOX9 and its interactions may play a key role in this pathogenesis. The current review aims to test this hypothesis. METHODS: Three literature searches were made: the first aimed to document the main syndromes associated with PRS; and the second was to document the main functions of SOX9 in development; and the third was to investigate if SOX9 and its interactions may play a role in the pathogenesis. RESULTS: SOX9 is the main positive regulator in the development of the mandibular cartilage and it also enhances collagen type II (the main collagen type in cartilage) expression in the mandibular cartilage. Furthermore, SOX9 participates in neural crest development, binds to the exon junction complex, and participates in sex determination. The interactions of SOX9 could explain the pathogenesis of the clinical features of syndromic PRS. These included interactions with collagen type II (in Strickler syndrome), exon junction complex (in Richier-Costa–Periera syndrome), glucose (in Catel–Manzke syndrome), RNA-binding proteins (in TARP syndrome), and the spliceosome (in cerebra-costo-mandibular syndrome). Finally, SOX9 mutations cause campomelic dysplasia. CONCLUSIONS: The review supports the hypothesis of the participation of SOX9 in the pathogenesis of the clinical features of syndromic and nonsyndromic PRS. This should guide future research on the topic.
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spelling pubmed-89940802022-04-11 The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions Al-Qattan, Mohammad M. Almohrij, Saad A. Plast Reconstr Surg Glob Open Craniofacial/Pediatric The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a hypothesis that SOX9 and its interactions may play a key role in this pathogenesis. The current review aims to test this hypothesis. METHODS: Three literature searches were made: the first aimed to document the main syndromes associated with PRS; and the second was to document the main functions of SOX9 in development; and the third was to investigate if SOX9 and its interactions may play a role in the pathogenesis. RESULTS: SOX9 is the main positive regulator in the development of the mandibular cartilage and it also enhances collagen type II (the main collagen type in cartilage) expression in the mandibular cartilage. Furthermore, SOX9 participates in neural crest development, binds to the exon junction complex, and participates in sex determination. The interactions of SOX9 could explain the pathogenesis of the clinical features of syndromic PRS. These included interactions with collagen type II (in Strickler syndrome), exon junction complex (in Richier-Costa–Periera syndrome), glucose (in Catel–Manzke syndrome), RNA-binding proteins (in TARP syndrome), and the spliceosome (in cerebra-costo-mandibular syndrome). Finally, SOX9 mutations cause campomelic dysplasia. CONCLUSIONS: The review supports the hypothesis of the participation of SOX9 in the pathogenesis of the clinical features of syndromic and nonsyndromic PRS. This should guide future research on the topic. Lippincott Williams & Wilkins 2022-04-08 /pmc/articles/PMC8994080/ /pubmed/35415063 http://dx.doi.org/10.1097/GOX.0000000000004241 Text en Copyright © 2022 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Craniofacial/Pediatric
Al-Qattan, Mohammad M.
Almohrij, Saad A.
The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
title The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
title_full The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
title_fullStr The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
title_full_unstemmed The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
title_short The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions
title_sort pathogenesis of pierre robin sequence through a review of sox9 and its interactions
topic Craniofacial/Pediatric
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8994080/
https://www.ncbi.nlm.nih.gov/pubmed/35415063
http://dx.doi.org/10.1097/GOX.0000000000004241
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