pontocerebellar hypoplasia type 1B

(redirected from PCH1B)

pontocerebellar hypoplasia type 1B

An autosomal recessive neurologic disorder (OMIM:614678) characterised by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay and brainstem involvement.

Molecular pathology
Caused by defects in EXOSC3, which encodes a non-catalytic component of the RNA exosome complex that has 3' to 5' exoribonuclease activity and participates in various RNA processing and degradation events.
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References in periodicals archive ?
PCH1A and PCH1B show distinct clinical manifestations with variability.
Similarly, impaired mRNA metabolism due to exosome dysfunction underlies PCH1B and C, with EXOSC3 and EXOSC8 encoding core components of the RNA exosomes that process and degrade RNA, regulating activity of gene expression.