Pontocerebellar hypoplasia type 2A

Common Name(s)

Pontocerebellar hypoplasia type 2A

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings ({1:Barth, 1993}). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2 PCH2B ({612389}) is caused by mutation in the TSEN2 gene ({608753}) on chromosome 3p25, and PCH2C ({612390}) is caused by mutation in the TSEN34 gene ({608754}) on chromosome 19q13.4. PCH2D ({613811}) is caused by mutation in the SEPSECS gene ({613009}) on chromosome 4p15.2. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing,
 

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