Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations in UBTF cause this disease. UBTF is a Pol I transcription factor and is instrumental in the generation of rRNA transcripts.
Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O
タイトル
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
