Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

Definition:

Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay. Patients harboring de novo heterozygous variants in POLR2A have been reported. Human POLR2A encodes the RPB1 protein, which is the largest of twelve subunits of the essential RNA polymerase II enzyme. Elongation of RNA polymerase II is affected by many factors including DNA damage.

References:

[1]. Hanneke A Haijes, et al. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet. 2019 Aug 1;105(2):283-301. [Content Brief]

[2]. Mingrui Duan, et al. Transcription-coupled nucleotide excision repair: New insights revealed by genomic approaches. DNA Repair (Amst). 2021 Jul;103:103126. [Content Brief]

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