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.
Rankin
Jessica K
JK
Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.
Andrews
Caroline
C
Chan
Wai-Man
WM
Engle
Elizabeth C
EC
D002648:Child; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D020331:Mobius Syndrome / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D000099261:Homeobox A1 Protein
D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099261:Homeobox A1 Protein