Article
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.
Congenital anomalies - 1 Mar 2021
Yamamoto-Shimojima Keiko, Osawa Mitsujiro, Saito Megumu K, Yamamoto Toshiyuki
Abstract excerpt
Large deletions in Xq22 are responsible for neurodevelopmental disorders, including severe intellectual disability and behavioral abnormalities. Although the deletion regions contain PLP1, the gene related to Pelizaeus-Merzbacher disease (PMD), patients with Xq22 deletions show no clinical features of PMD such as paraplegia and white matter abnormalities. This could be due to skewed X-chromosome inactivation...
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