UGDH germline loss-of-function mutations cause epilepsy and global developmental delay
نویسندگان
چکیده
منابع مشابه
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy have been identified, many of which are implicated in synaptic function. Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis. This nonsense mutation was found in all af...
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We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast c...
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objective mental retardation (mr) or intellectual disability is one of three chronic and disabling neurological disorders of children and adolescents. its prevalence is estimated 1-3% of the population. mr is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. mr may come into view before 5 years as delay in at least two...
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1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficie...
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ژورنال
عنوان ژورنال: Mechanisms of Development
سال: 2017
ISSN: 0925-4773
DOI: 10.1016/j.mod.2017.04.016