Athabaskan Brainstem Dysgenesis Syndrome

Alternative Names

  • ABDS
  • Navajo Brainstem Syndrome
  • Bosley-Salih-Alorainy Syndrome
  • BSAS

Associated Genes

Homeobox A1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

601536

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7p15.2

Description

The Athabaskan brainstem dysgenesis syndrome (ABDS) is a recessive genetic disorder with the following features: horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay.  These features significantly overlap with another congenital syndrome; the Bosley-Salih-Alorainy syndrome (BSAS). The phenotype of the latter syndrome includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries, and cardiac outflow tract, mental retardation and autism spectrum disorder.

Importantly, many cases with BSAS suffered certain characteristic features of ABDS and vice versa, making it difficult to distinguish between these two syndromic variants especially that they result from mutations in the same gene (HOXA1). HOXA1 functions to ensure the correct placement of hindbrain segments in the proper location along the anterior-posterior axis during development.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
601536.1.1Saudi ArabiaFemaleYesYes Hearing impairment; Abnormal helix morph...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Patient from 'family...
601536.1.2Saudi ArabiaMaleYesYes Hearing impairment; Motor delay; Polydac...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Brother of 601536.1....
601536.1.3Saudi ArabiaMaleYesYes Hearing impairment; Motor delay; Autisti...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Brother of 601536.1....
601536.2.1Saudi ArabiaFemaleYesYes Hearing impairment; Motor delayNM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Patient from 'family...
601536.2.2Saudi ArabiaFemaleYesYes Hearing impairment; Motor delay; Autisti...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Sister of 601536.2.1
601536.3.1Saudi ArabiaFemaleYesYes Hearing impairment; Motor delay; Pendula...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Patient from 'family...
601536.3.2Saudi ArabiaFemaleYesYes Hearing impairment; Motor delay; Chronic...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Sister of 601536.3.1
601536.4.1Saudi ArabiaMaleYes Talipes equinovarusNM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007; Tischfield et al. 2005 Patient from 'family...
601536.5Saudi ArabiaFemaleYes Hearing impairment; Facial grimacingNM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2007 Patient from 'family...
601536.6Saudi ArabiaMaleYes Hearing impairmentNM_005522.5:c.185delHomozygousAutosomal, RecessiveBosley et al. 2008 'Patient A1' in the ...
601536.7Saudi ArabiaFemaleYes Hearing impairment; Global developmental...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2008 'Patient B1' in the ...
601536.8.1Saudi ArabiaMaleYesYes Hearing impairment; Global developmental...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2008 'Patient C1' in the ...
601536.8.2Saudi ArabiaFemaleYesYes Hearing impairment; Talipes equinovarus;...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2008 Sister of 601538.8.1
601536.8.3Saudi ArabiaFemaleYesYes Congestive heart failure; Ventricular se...NM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2008 Sister of 601538.8.1
601536.8.4Saudi ArabiaMaleYesYes Ventricular septal defectNM_005522.5:c.175dupHomozygousAutosomal, RecessiveBosley et al. 2008 Brother of 601538.8....

Other Reports

Saudi Arabia

Oystreck et al. (2011) detailed the clinical features of five Saudi patients with different ocular motility abnormalities. One of the five patients was an 11-year-old girl with Bosley-Salih-Alorainy syndrome who presented with anomalous horizontal eye movements and complete congenital deafness since birth.  Her younger sister also had similar features; their parents were first cousins.

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