2. Academic Validation
  3. Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome

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

  • Oral Maxillofac Surg. 2015 Jun;19(2):109-16. doi: 10.1007/s10006-015-0485-6.
Sameep Kadakia 1,  Samuel N Helman,  Thomas Schwedhelm,  Masoud Saman,  Babak Azizzadeh
Affiliations

Affiliation

  • 1 Department of Otolaryngology-Head and Neck Surgery, New York Eye and Ear Infirmary-Mount Sinai Health System, 310 East 14th Street, 6th Floor, New York, NY, 10009, USA, [email protected].
PMID: 25663568 DOI: 10.1007/s10006-015-0485-6
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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