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Oral and Maxillofacial Surgery
Published in: Oral and Maxillofacial Surgery 2/2015

01-06-2015 | Review Article

Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome

Authors: Sameep Kadakia, Samuel N. Helman, Thomas Schwedhelm, Masoud Saman, Babak Azizzadeh

Published in: Oral and Maxillofacial Surgery | Issue 2/2015

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Abstract

Objectives

The molecular underpinnings of Moebius syndrome (MBS) are diverse. This article provides a comprehensive summation of the genetic and etiologic literature underlying this disorder. Elucidating the genetic causes of the disorder can aid in earlier detection and treatment planning.

Design

Articles from 1880–2013 were selected and reviewed by six researchers to understand all of the molecular theories and chronicity of advancements in the literature.

Results

Mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain. These are among the numerous genes that have been linked to the development of MBS.

Conclusion

Our study codified nascent findings of the molecular determinants of MBS. These findings add to a growing database of MBS-associated mutations and can be used to diagnose MBS and clarify pathogenesis.
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Metadata
Title
Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome
Authors
Sameep Kadakia
Samuel N. Helman
Thomas Schwedhelm
Masoud Saman
Babak Azizzadeh
Publication date
01-06-2015
Publisher
Springer Berlin Heidelberg
Published in
Oral and Maxillofacial Surgery / Issue 2/2015
Print ISSN: 1865-1550
Electronic ISSN: 1865-1569
DOI
https://doi.org/10.1007/s10006-015-0485-6

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