Pontocerebellar Hypoplasia, Type 2c

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

TSEN2, SEPSECS, TSEN34, TSEN15, TSEN54, TRIP13

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A number sign (#) is used with this entry because of evidence that pontocerebellar hypoplasia type 2C (PCH2C) is caused by homozygous mutation in the TSEN34 gene (608754) on chromosome 19q13. One such patient has been reported.

Description

Pontocerebellar hypoplasia (PCH) represents 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 (Barth, 1993).

For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).

Molecular Genetics

In an individual of Turkish origin with PCH2, Budde et al. (2008) identified homozygosity for a missense mutation in the TSEN34 gene (R58W; 608754.0001).