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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Tischfield MA,Bosley TM,Salih MA,Alorainy IA,Sener EC,Nester MJ,Oystreck DT,Chan WM,Andrews C,Erickson RP,Engle EC

doi

10.1038/ng1636

keywords:

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

1035-7

issue

10

eissn

1061-4036

issn

1546-1718

pii

ng1636

journal_volume

37

pub_type

杂志文章

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