The clinical spectrum of homozygous HOXA1 mutations

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...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-05, Vol.146A (10), p.1235-1240
Main Authors: Bosley, Thomas M., Alorainy, Ibrahim A., Salih, Mustafa A., Aldhalaan, Hesham M., Abu-Amero, Khaled K., Oystreck, Darren T., Tischfield, Max A., Engle, Elizabeth C., Erickson, Robert P.
Format: Article
Language:English
Subjects:
ABDS
Abnormalities, Multiple - genetics
Abnormalities, Multiple - physiopathology
Adolescent
Adult
Biological and medical sciences
BSAS
Cardiovascular Abnormalities - genetics
Cerebrovascular Disorders - genetics
cerebrovascular malformation
Child
Child, Preschool
Cognition Disorders - genetics
deafness
Deafness - genetics
Duane syndrome
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Family
Female
Genotype
Homeodomain Proteins - genetics
Homozygote
HOXA1
Humans
Indians, North American
Male
Medical genetics
Medical sciences
Musculoskeletal Abnormalities - genetics
Mutation
Nervous System Malformations - genetics
Non tumoral diseases
Ocular Motility Disorders - genetics
Otorhinolaryngology. Stomatology
Phenotype
Saudi Arabia
Syndrome
Transcription Factors - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32262