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

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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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Authors and Affiliations

  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

    Sameep Kadakia & Samuel N. Helman

  2. Albert Einstein College of Medicine, Bronx, NY, USA

    Thomas Schwedhelm

  3. Department of Otolaryngology—Head and Neck Surgery, Facial Plastic Surgery Associates, Fort Worth, TX, USA

    Masoud Saman

  4. Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

    Babak Azizzadeh

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  1. Sameep Kadakia
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  2. Samuel N. Helman
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  3. Thomas Schwedhelm
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  4. Masoud Saman
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  5. Babak Azizzadeh
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Correspondence to Sameep Kadakia.

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Kadakia, S., Helman, S.N., Schwedhelm, T. et al. Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome. Oral Maxillofac Surg 19, 109–116 (2015). https://doi.org/10.1007/s10006-015-0485-6

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  • DOI: https://doi.org/10.1007/s10006-015-0485-6

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