Work

Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex

Year: 2020

Type: review

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.

Source: Journal of Developmental Biology

DOI: 10.3390/jdb8040030

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

Institutions: Pennsylvania State University, Icahn School of Medicine at Mount Sinai, Midwestern University

Language: English

Topic: Cleft Lip and Palate Research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,056