Searching across hundreds of databases

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

HOXA1 mutations are not a common cause of Möbius syndrome.

The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weakness and impaired ocular abduction; mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities also occur. We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether individuals with Möbius syndrome might harbor mutations in HOXA1. Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population.

Pubmed ID: 20227628 RIS Download

Mesh terms: Child | Duane Retraction Syndrome | Exons | Genetic Predisposition to Disease | Homeodomain Proteins | Humans | Introns | Mobius Syndrome | Phenotype | Polymorphism, Single Nucleotide | Transcription Factors

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: NEI NIH HHS, Id: R01 EY015298
  • Agency: NICHD NIH HHS, Id: P30 HD018655
  • Agency: NICHD NIH HHS, Id: HD18655
  • Agency: NEI NIH HHS, Id: R01 EY015298-05
  • Agency: Howard Hughes Medical Institute, Id: NEI R01EY15298
  • Agency: NEI NIH HHS, Id: P30 HD018655-28
  • Agency: NICHD NIH HHS, Id:

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

We have not found any resources mentioned in this publication.