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Article

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Human mutation - 1 May 2017

Mattiske Tessa, Moey Ching, Vissers Lisenka E, Thorne Natalie, Georgeson Peter, Bakshi Madhura, Shoubridge Cheryl

Abstract excerpt

The devastating clinical presentation of X-linked lissencephaly with abnormal genitalia (XLAG) is invariably caused by loss-of-function mutations in the Aristaless-related homeobox (ARX) gene. Mutations in this X-chromosome gene contribute to intellectual disability (ID) with co-morbidities including seizures and movement disorders such as dystonia in affected males. The detection of affected females with...

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Identifiers

PMID: 28150386
DOI: 10.1002/humu.23190

Genes

ARX

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An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.PMID 28150386Read ↗

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.Semantic proximity Read ↗

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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.Semantic proximity Read ↗

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Semantic proximity Read ↗

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.Semantic proximity Read ↗

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.Semantic proximity Read ↗

A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.Semantic proximity Read ↗

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.Semantic proximity Read ↗

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