TY - JOUR
T1 - A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia
AU - van Dijk, Tessa
AU - Vermeij, Jan-Dirk
AU - van Koningsbruggen, Silvana
AU - Lakeman, Phillis
AU - Baas, Frank
AU - Poll-The, Bwee Tien
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85042224494&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29464431
U2 - https://doi.org/10.1007/s10545-018-0151-x
DO - https://doi.org/10.1007/s10545-018-0151-x
M3 - Article
C2 - 29464431
SN - 0141-8955
VL - 41
SP - 897
EP - 898
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 5
ER -