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


Ontology type: schema:ScholarlyArticle     


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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53 cerebellocerebral atrophy
54 childhood neurological disorders
55 clinical features
56 clinical symptoms
57 conditions
58 detailed clinical features
59 development
60 disorders
61 exome sequencing
62 family
63 family 1
64 family 2
65 features
66 genetic analysis
67 genetic basis
68 genetic heterogeneity
69 heterogeneity
70 hypoplasia type 2
71 imaging
72 infancy
73 late-onset cerebellar atrophy
74 magnetic resonance imaging
75 milder
76 milder late-onset cerebellar atrophy
77 mutations
78 neurological disorders
79 new family
80 normal brain magnetic resonance imaging
81 patients
82 pontocerebellar hypoplasia type 2
83 progression
84 progressive cerebellar atrophy
85 progressive cerebellocerebral atrophy
86 recessive mutations
87 resonance imaging
88 sequencing
89 symptoms
90 synthase
91 tRNA
92 tRNA synthase
93 total
94 type 2
95 types
96 whole exome sequencing
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