Article
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Human mutation - 1 Jan 2014
Qiao Ying, Mondal Kajari, Trapani Valentina, Wen Jiadi, Carpenter Gillian, Wildin Robert, Price E Magda, Gibbons Richard J, Eichmeyer Jennifer, Jiang Ruby, DuPont Barbara, Martell Sally, Lewis Suzanne M E, Robinson Wendy P, O'Driscoll Mark, Wolf Federica I, Zwick Michael E, Rajcan-Separovic Evica
Abstract excerpt
A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion in the last exon of ATRX were identified using a chromosome X-specific microarray and exome sequencing in a family with five males demonstrating intellectual disability (ID) and unusual skin findings (e.g., generalized pruritus). MAGT1 is an Mg²⁺ transporter previously associated with primary immunodeficiency and ID, whereas mutations in ATRX...
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