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Human HOXA1 Syndromes

Abstract

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NORD is very grateful to Elizabeth C. Engle, MD, Professor of Neurology and Ophthalmology, Children's Hospital Boston and Harvard Medical School, and Max A. Tischfield, PhD, Johns Hopkins Medical School, for assistance in the preparation of this report.

Synonyms of Human HOXA1 Syndromes

  • Athabaskan brainstem dysgenesis syndrome (ABDS)
  • Bosley-Salih-Alorainy syndrome (BSAS)
  • Navajo brainstem syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Human HOXA1 syndromes are rare disorders with complex neurological and systemic symptoms. These syndromes are found among a few American Indian tribes such as the Navajo and Apaches, who are related to Athabaskan Indians of northern Canada.

It is also found in consanguineous Saudi Arabian and Turkish families. Various names have been applied (see the synonyms above), but the name human HOXA1 syndromes is generally used because it is not linked to a specific geographic location.

The identity of the disorder was determined by genetic studies of the parents and affected children. To date, each affected child acquires a copy of the same mutated gene from each of the parents (homozygosity) who share ancestral relationships. The abnormal gene has been identified and its location on chromosome 7 has been determined. Human HOXA1 syndromes are inherited as autosomal recessive genetic conditions.

Human HOXA1 Syndromes Resources

Organizations:

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