Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations View Full Text


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Article Info

DATE

2016-02-18

AUTHORS

Kazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, Chihiro Ohba, Emi Iwabuchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto

ABSTRACT

Cerebellar atrophy is recognized in various types of childhood neurological disorders with clinical and genetic heterogeneity. Genetic analyses such as whole exome sequencing are useful for elucidating the genetic basis of these conditions. Pathological recessive mutations in Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS) have been reported in a total of 11 patients with pontocerebellar hypoplasia type 2, progressive cerebellocerebral atrophy or progressive encephalopathy, yet detailed clinical features are limited to only four patients. We identified two new families with progressive cerebellar atrophy, and by whole exome sequencing detected biallelic SEPSECS mutations: c.356A>G (p.Asn119Ser) and c.77delG (p.Arg26Profs*42) in family 1, and c.356A>G (p.Asn119Ser) and c.467G>A (p.Arg156Gln) in family 2. Their development was slightly delayed regardless of normal brain magnetic resonance imaging (MRI) in infancy. The progression of clinical symptoms in these families is evidently slower than in previously reported cases, and the cerebellar atrophy milder by brain MRI, indicating that SEPSECS mutations are also involved in milder late-onset cerebellar atrophy. More... »

PAGES

527-531

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.9

DOI

http://dx.doi.org/10.1038/jhg.2016.9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1003493477

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26888482


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79 normal brain magnetic resonance imaging
80 patients
81 pontocerebellar hypoplasia type 2
82 progression
83 progressive cerebellar atrophy
84 progressive cerebellocerebral atrophy
85 recessive mutations
86 resonance imaging
87 sequencing
88 symptoms
89 synthase
90 tRNA
91 tRNA synthase
92 total
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94 types
95 whole-exome sequencing
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