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Pontocerebellar hypoplasia type 1

Other Names for this Disease
  • Pontocerebellar hypoplasia with anterior horn cell disease
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy
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What causes pontocerebellar hypoplasia type 1?

A specific mutations in the VRK1 gene has caused PCH1 in at least one family.[1] Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. Mutations in RARS2 were also identified in one case with PCH1.[2]

In general, there is no known genetic cause for the majority of PCH1 cases and no other genes have been linked to PCH1 yet, with the exception of rare cases associated with TSEN54, RARS2 and VRK1 mutations. In fact, only fifteen families with PCH1 have been published thus far; of these, mutations were only identified in 3 families. Further research on these and other candidate genes in PCH1 is necessary to identify mutations involved in the remaining majority of the PCH1 cases.[2]

Specific mutations in other genes have been shown to cause the various other forms of pontocerebellar hypoplasia and include the RARS2, TSEN2, TSEN34, and TSEN54 genes. Mutations in three related genes, TSEN2, TSEN34, and TSEN54, can result in PCH2.[1] TSEN54 gene mutations can also cause PCH4 and PCH5.[2951] Mutations in the RARS2 gene can cause PCH6. The genetic cause of PCH3 is unknown.[1]
Last updated: 7/20/2011

  1. Pontocerebellar hypoplasia. Genetics Home Reference (GHR). December 2009; Accessed 7/20/2011.
  2. Namavar Y et al.. Orphanet Journal of Rare Diseases. 2011; 6(50): Accessed 7/20/2011.