Document Detail


The clinical spectrum of homozygous HOXA1 mutations.
MedLine Citation:
PMID:  18412118     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.
Authors:
Thomas M Bosley; Ibrahim A Alorainy; Mustafa A Salih; Hesham M Aldhalaan; Khaled K Abu-Amero; Darren T Oystreck; Max A Tischfield; Elizabeth C Engle; Robert P Erickson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-29     Completed Date:  2008-05-28     Revised Date:  2013-04-18    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1235-40     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Affiliation:
The Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. bosley-thomas@cooperhealth.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  physiopathology*
Adolescent
Adult
Cardiovascular Abnormalities / genetics
Cerebrovascular Disorders / genetics
Child
Child, Preschool
Cognition Disorders / genetics
Deafness / genetics
Family
Female
Genotype
Homeodomain Proteins / genetics*
Homozygote*
Humans
Indians, North American
Male
Musculoskeletal Abnormalities / genetics
Mutation*
Nervous System Malformations / genetics
Ocular Motility Disorders / genetics
Phenotype
Saudi Arabia
Syndrome
Transcription Factors / genetics*
Grant Support
ID/Acronym/Agency:
R01 EY015298/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Homeodomain Proteins; 0/Transcription Factors; 0/homeobox A1 protein
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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