GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:16155570

From GONUTS
Jump to: navigation, search
Citation

Tischfield, MA, Bosley, TM, Salih, MA, Alorainy, IA, Sener, EC, Nester, MJ, Oystreck, DT, Chan, WM, Andrews, C, Erickson, RP and Engle, EC (2005) Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat. Genet. 37:1035-7

Abstract

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype 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. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.

Links

PubMed Online version:10.1038/ng1636

Keywords

Autistic Disorder/ethnology; Autistic Disorder/genetics; Brain Stem/growth & development; Cardiovascular Abnormalities/ethnology; Cardiovascular Abnormalities/genetics; Carotid Artery, Internal/abnormalities; Carotid Artery, Internal/growth & development; Cognition Disorders/genetics; Deafness/ethnology; Deafness/genetics; Ear, Inner/growth & development; Homeodomain Proteins/genetics; Homozygote; Humans; Intellectual Disability/ethnology; Intellectual Disability/genetics; Ocular Motility Disorders/ethnology; Ocular Motility Disorders/genetics; Saudi Arabia; Syndrome; Transcription Factors/genetics; Turkey

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:HXA1

involved_in

GO:0090103: cochlea morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0090102: cochlea development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0060876: semicircular canal formation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0060840: artery development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0050905: neuromuscular process

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0050890: cognition

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0050795: regulation of behavior

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0048844: artery morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0048839: inner ear development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0048702: embryonic neurocranium morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0042473: outer ear morphogenesis

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0021599: abducens nerve formation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0009653: anatomical structure morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0007634: optokinetic behavior

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HXA1

involved_in

GO:0007605: sensory perception of sound

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

See also

References

See Help:References for how to manage references in GONUTS.