Article
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
American journal of human genetics - 2 Apr 2020
Tan Tiong Yang, Sedmík Jiří, Fitzgerald Mark P, Halevy Rivka Sukenik, Keegan Liam P, Helbig Ingo, Basel-Salmon Lina, Cohen Lior, Straussberg Rachel, Chung Wendy K, Helal Mayada, Maroofian Reza, Houlden Henry, Juusola Jane, Sadedin Simon, Pais Lynn, Howell Katherine B, White Susan M, Christodoulou John, O'Connell Mary A
Abstract excerpt
The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. In one individual, a homozygous variant in one of the double-stranded RNA-binding...
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