Gül Demet KAYA ÖZÇORA, Dilek AKTAŞ, Sefer KUMANDAŞ

CLP1 associated pontocerebellar hypoplasia

Pontocerebellar hypoplasia (PCH) is a group of hereditary neurodegenerative diseases characterized by the developmental pathologyof infra tentorial brain structures such as cerebellum and pons. In recent years, many new PCH cases have been identified due to theevolution and easily accessible of genetic analysis such as next-generation sequencing. We described a family were referred to our clinic because of epilepsy and MMR in two brothers with dysmorphic features: Physicalexamination revealed dysmorphic features such as; forehead sloping, hypertelorism, hypertrichosis, indistinct philtrum, cuppedright ear, anteverted nares, oligodontia, high-arched palate, short neck, low posterior hairline, pes equinovarus, microcephaly(45cm, A [hg19], NM_006831.2) pathogenic variant in the CLP1 gene which weredescribed in 2014 in patients with similar clinical features. In patients with pontocerebellar hypoplasia in MRI, if other causes in the differential diagnosis are ruled out except types andsubtypes of PCH and MRI does not show dragon-fly like pattern CLP1 gene can be sequenced first before whole exome or genomesequencing in patients with Asian origin which is much more cheaper and faster.

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