Document Detail


Clinical characterization of the HOXA1 syndrome BSAS variant.
MedLine Citation:
PMID:  17875913     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive function.
METHODS: We examined nine affected individuals from five consanguineous Saudi Arabian families, all of whom harbored the same I75-I76insG homozygous mutation in the HOXA1 gene. Patients underwent complete neurologic, neuro-ophthalmologic, orthoptic, and neuropsychological examinations. Six individuals had CT, and six had MRI of the head.
RESULTS: All nine individuals had bilateral Duane retraction syndrome (DRS) type 3, but extent of abduction and adduction varied between eyes and individuals. Eight patients were deaf with the common cavity deformity of the inner ear, while one patient had normal hearing and skull base development. Six had delayed motor milestones, and two had cognitive and behavioral abnormalities meeting Diagnostic and Statistical Manual of Mental Disorders-IV criteria for autism spectrum disorder. MRI of the orbits, extraocular muscles, brainstem, and supratentorial brain appeared normal. All six appropriately studied patients had cerebrovascular malformations ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis.
CONCLUSIONS: This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population. Similarities between this syndrome and thalidomide embryopathy suggest that the teratogenic effects of early thalidomide exposure in humans may be due to interaction with the HOX cascade.
Authors:
T M Bosley; M A Salih; I A Alorainy; D T Oystreck; M Nester; K K Abu-Amero; M A Tischfield; E C Engle
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neurology     Volume:  69     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-09-18     Completed Date:  2007-10-15     Revised Date:  2014-09-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1245-53     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Carotid Artery, Internal / abnormalities,  pathology,  physiopathology
Child
Child, Preschool
Cognition Disorders / genetics,  pathology,  physiopathology
Deafness / genetics,  pathology,  physiopathology
Developmental Disabilities / genetics,  pathology,  physiopathology
Ear, Inner / abnormalities,  pathology,  physiopathology
Female
Genetic Markers
Genetic Predisposition to Disease / genetics*
Homeodomain Proteins / genetics*
Humans
Magnetic Resonance Imaging
Male
Mutation / genetics*
Nervous System Malformations / genetics*,  pathology,  physiopathology*
Ocular Motility Disorders / genetics,  physiopathology
Phenotype
Saudi Arabia
Skull Base / abnormalities,  pathology,  physiopathology
Syndrome
Transcription Factors / genetics*
Grant Support
ID/Acronym/Agency:
R01 EY015298/EY/NEI NIH HHS; R01 EY015298-01/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Homeodomain Proteins; 0/Transcription Factors; 0/homeobox A1 protein
Comments/Corrections

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