TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

Excerpt

Pontocerebellar hypoplasias (PCHs) are genetically determined conditions characterized by disturbances of maturation of the ventral pontine nuclei and hemispheric cerebellar cortex. Characteristic clinical findings (such as progressive microcephaly, the presence of spasticity, the occurrence of dyskinesia), the possible involvement of anterior horn cells (AHCs) of the spinal cord, and the peculiar neuropathological features led to the identification of two major forms, PCH1 and PCH2. In the past few years, mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex—TSEN54 in most of the cases—were detected in patients who displayed classical PCH2 features, or its allelic, more severe PCH4. The genetics of the phenotypically heterogeneous PCH1 is less clear, and, only recently, two genes were identified [2, 3, 5]. …