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Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.

ABSTRACT: The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR.

SUBMITTER: Motch Perrine SM

PROVIDER: S-EPMC7768358 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.

Motch Perrine Susan M SM Wu Meng M Holmes Greg G Bjork Bryan C BC Jabs Ethylin Wang EW Richtsmeier Joan T JT

Journal of developmental biology 20201205 4

The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current und ...[more]

PMID: 33291480

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BMPR1B mutation causes Pierre Robin sequence.

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Pierre robin sequence and the pediatric dentist.

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Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.

Project description:Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.

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A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome.

Project description:Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated.In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group.

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A comprehensive scoring system in correlation with perioperative airway management for neonatal Pierre Robin Sequence.

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Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice.

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