Unknown

Dataset Information

0

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.

ABSTRACT: Whole exome sequencing using a parent-child trio design to identify de novo mutations provides an efficient method to identify novel genes for rare diseases with low reproductive fitness that are difficult to study by more classical genetic methods of linkage analysis. We describe a 15 y old female with severe static encephalopathy, intellectual disability, and generalized epilepsy. After extensive metabolic and genetic testing, whole exome sequencing identified a novel de novo variant in Synaptosomal-associated protein-25 (SNAP25), c.142G > T p.Phe48Val alteration. This variant is predicted to be damaging by all prediction algorithms. SNAP25 is part of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) protein complex which is involved in exocytotic release of neurotransmitters. Genetic alterations in Snap25 in animal models can cause anxiety-related behavior, ataxia and seizures. We suggest that SNAP25 mutations in humans are a novel genetic cause of intellectual disability and epilepsy.

SUBMITTER: Rohena L 

PROVIDER: S-EPMC3932847 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.

Rohena Luis L   Neidich Julie J   Truitt Cho Megan M   Gonzalez Kelly Df KD   Tang Sha S   Devinsky Orrin O   Chung Wendy K WK  

Rare diseases (Austin, Tex.) 20130905

Whole exome sequencing using a parent-child trio design to identify de novo mutations provides an efficient method to identify novel genes for rare diseases with low reproductive fitness that are difficult to study by more classical genetic methods of linkage analysis. We describe a 15 y old female with severe static encephalopathy, intellectual disability, and generalized epilepsy. After extensive metabolic and genetic testing, whole exome sequencing identified a novel de novo variant in Synapt  ...[more]

Similar Datasets

Unknown De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
| S-EPMC6777445 | biostudies-literature
Unknown Dominant <i>LMAN2L</i> mutation causes intellectual disability with remitting epilepsy.
| S-EPMC6469342 | biostudies-literature
Unknown A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
| S-EPMC4609881 | biostudies-literature
Unknown The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.
| S-EPMC8057083 | biostudies-literature
Unknown Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
| S-EPMC8059333 | biostudies-literature
Unknown Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
| S-EPMC4947865 | biostudies-literature
Transcriptomics NONO mutations are a novel cause of syndromic intellectual disability and inhibitory synaptic defects
2015-11-14 | GSE62575 | GEO
Unknown A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
| S-EPMC2933342 | biostudies-literature
Unknown Novel SETBP1 mutation in a chinese family with intellectual disability.
| S-EPMC10552191 | biostudies-literature
Unknown Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
| S-EPMC4404493 | biostudies-literature