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A SEPSECS mutation in a 23‐year‐old woman with microcephaly and progressive cerebellar ataxia
Author(s) -
Dijk Tessa,
Vermeij JanDirk,
Koningsbruggen Silvana,
Lakeman Phillis,
Baas Frank,
PollThe Bwee Tien
Publication year - 2018
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-018-0151-x
Subject(s) - missense mutation , microcephaly , cerebellar ataxia , cerebellum , ataxia , cerebellar hypoplasia (non human) , hypoplasia , pons , medicine , atrophy , mutation , exome sequencing , pathology , genetics , neuroscience , pediatrics , biology , gene
Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23‐year‐old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in selenoprotein synthesis can also result in milder cerebellar atrophy presenting at a later age.