This website provides information on patients with mutations in the HOXA1 gene, including clinical data, molecular data, management, and research options.
The syndromes caused by mutations in the HOXA1 gene lead to two allelic diseases, namely Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome (ABDS). Both are multisystem disorders, which are characterized by ocular motility disorder (horizontal gaze palsy/Duane anomaly), sensorineural deafness, variable cerebrovascular malformations, and motor developmental delay.
The differential clinical features which are present in ABDS are the presence of central hypoventilation and intellectual disability. Congenital heart disease (commonly conotruncal) and facial/bulbar weakness are other variable clinical manifestations of ABDS. Not all individuals with a mutation in the HOXA1 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the HOXA1 gene.
SJ Patil, MD, DM, Mazumdar Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Visiting Consultant JSS Medical College, Bengaluru, India, firstname.lastname@example.org
Prince Jacob, MSc, PhD, Department of Medical Genetics, JSS Medical College, Mysuru, India, email@example.com