Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/105786
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | An emerging female phenotype with loss-of-function mutations in the Aristaless-related homeodomain transcription factor ARX |
Author: | Mattiske, T. Moey, C. Vissers, L. Thorne, N. Georgeson, P. Bakshi, M. Shoubridge, C. |
Citation: | Human Mutation, 2017; 38(5):548-555 |
Publisher: | Wiley |
Issue Date: | 2017 |
ISSN: | 1059-7794 1098-1004 |
Statement of Responsibility: | Tessa Mattiske, Ching Moey, Lisenka E. Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi and Cheryl Shoubridge |
Abstract: | 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 mutations in ARX is increasing. We present a family with multiple affected individuals, including two females. Two male siblings presenting with XLAG were deceased prior to full-term gestation or within the first few weeks of life. Of the two female siblings, one presented with behavioral disturbances, mild ID, a seizure disorder, and complete agenesis of the corpus callosum (ACC), similar to the mother's phenotype. A novel insertion mutation in Exon 2 of ARX was identified, c.982delCinsTTT predicted to cause a frameshift at p.(Q328Ffs* 37). Our finding is consistent with loss-of-function mutations in ARX causing XLAG in hemizygous males and extends the findings of ID and seizures in heterozygous females. We review the reported phenotypes of females with mutations in ARX and highlight the importance of screening ARX in male and female patients with ID, seizures, and in particular with complete ACC. |
Keywords: | ARX Aristaless-related homeobox LISX2 X-linked lissencephaly X-linked lissencephaly-2 XLAG intellectual disability seizure |
Rights: | © 2017 WILEY PERIODICALS, INC. |
DOI: | 10.1002/humu.23190 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1063025 http://purl.org/au-research/grants/arc/FT120100086 |
Published version: | http://dx.doi.org/10.1002/humu.23190 |
Appears in Collections: | Aurora harvest 3 Genetics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.