A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-02-28

AUTHORS

Hiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Uri Kramer, Naomichi Matsumoto, Aviva Fattal-Valevski

ABSTRACT

SNAP25 is a core component of the soluble N-ethylmaleimide-sensitive factor attachment receptor complex, which plays a critical role in synaptic vesicle exocytosis. To date, six de novo SNAP25 mutations have been reported in patients with neurological features including seizures, intellectual disability, severe speech delay, and cerebellar ataxia. Here, we analyzed an Israeli family with two affected siblings showing seizures and cerebellar dysfunction by whole-exome sequencing, and identified a novel missense SNAP25 mutation (c.176G > C, p.Arg59Pro) inherited from their unaffected father. Two SNAP25 isoforms are known, SNAP25a and SNAP25b, which each contain a different exon 5. The c.176G > C mutation found in this study was specific to SNAP25b, while five previously reported mutations were identified in exons common to both isoforms. Another was previously reported to be specific to SNAP25b. Comparing clinical features of reported patients with SNAP25 mutations, the current patients demonstrated apparently milder clinical features with normal intelligence, and no magnetic resonance imaging abnormality or facial dysmorphism. Our results expand the clinical spectrum of SNAP25 mutations. More... »

PAGES

673-676

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0421-3

DOI

http://dx.doi.org/10.1038/s10038-018-0421-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101265470

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29491473


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78 normal intelligence
79 novel missense SNAP25 mutation
80 novel missense SNAP25b mutation
81 novo SNAP25 mutations
82 patients
83 receptor complex
84 resonance
85 results
86 role
87 seizures
88 sequencing
89 severe speech delay
90 siblings
91 spectra
92 speech delay
93 study
94 synaptic vesicle exocytosis
95 unaffected father
96 vesicle exocytosis
97 whole-exome sequencing
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