It has been established that HOXA1 deficiency, which disrupts normal motor neuron development and results in loss of normal brainstem function, is the genetic etiology of Athabaskan brainstem dysgenesis syndrome.[2] It has been discovered that two loss-of-function non-sense mutations in the HOXA1 gene, which result in a shortened protein product, are homozygous in patients with Athabaskan brainstem dysgenesis syndrome.[3]
^ abcdefghHolve, Steve; Friedman, Barbara; Hoyme, H. Eugene; Tarby, Theodore J.; Johnstone, Sharon J.; Erickson, Robert P.; Clericuzio, Carol L.; Cunniff, Christopher (2003). "Athabascan brainstem dysgenesis syndrome". American Journal of Medical Genetics Part A. 120A (2). Wiley: 169–173. doi:10.1002/ajmg.a.20087. ISSN1552-4825.
^Erickson, Robert P. (2009-10-28). "Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the future". American Journal of Medical Genetics Part A. 149A (11). Wiley: 2602–2611. doi:10.1002/ajmg.a.33052. ISSN1552-4825.
^Engle, Elizabeth C. (2007-05-01). "Oculomotility Disorders Arising From Disruptions in Brainstem Motor Neuron Development". Archives of Neurology. 64 (5). American Medical Association (AMA): 633. doi:10.1001/archneur.64.5.633. ISSN0003-9942.