Phenotypes, developmental basis, and genetics of pierre robin complex

Susan M.Motch Perrine; Meng Wu; Greg Holmes; Bryan C. Bjork; Ethylin Wang Jabs; Joan T. Richtsmeier

doi:10.3390/jdb8040030

Phenotypes, developmental basis, and genetics of pierre robin complex

Susan M.Motch Perrine, Meng Wu, Greg Holmes, Bryan C. Bjork, Ethylin Wang Jabs, Joan T. Richtsmeier

Research output: Contribution to journal › Review article › peer-review

11 Scopus citations

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.

Original language	English (US)
Article number	30
Pages (from-to)	1-21
Number of pages	21
Journal	Journal of Developmental Biology
Volume	8
Issue number	4
DOIs	https://doi.org/10.3390/jdb8040030
State	Published - 2020

All Science Journal Classification (ASJC) codes

Molecular Biology
Developmental Biology
Cell Biology

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10.3390/jdb8040030

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title = "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.",

author = "Perrine, {Susan M.Motch} and Meng Wu and Greg Holmes and Bjork, {Bryan C.} and Jabs, {Ethylin Wang} and Richtsmeier, {Joan T.}",

note = "Funding Information: This research was funded by NIH/NIDCR 1 R01 DE029322-01 grant (MW, GH, EWJ) and NIH/NIDCR 1 R01 DE027677-03 (JTR, SMMP). Publisher Copyright: {\textcopyright} 2020 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2020",

doi = "10.3390/jdb8040030",

language = "English (US)",

volume = "8",

pages = "1--21",

journal = "Journal of Developmental Biology",

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AU - Perrine, Susan M.Motch

AU - Wu, Meng

AU - Holmes, Greg

AU - Bjork, Bryan C.

AU - Jabs, Ethylin Wang

AU - Richtsmeier, Joan T.

N1 - Funding Information: This research was funded by NIH/NIDCR 1 R01 DE029322-01 grant (MW, GH, EWJ) and NIH/NIDCR 1 R01 DE027677-03 (JTR, SMMP). Publisher Copyright: © 2020 by the authors. Licensee MDPI, Basel, Switzerland.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

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Phenotypes, developmental basis, and genetics of pierre robin complex

Abstract

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