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Article
Open AccessDe novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and
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Article
Open AccessA novel CUL4B splice site variant in a young male exhibiting less pronounced features
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and shor...
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Article
Open AccessA novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microceph...
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Article
Open AccessDefects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficie...
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Article
Open AccessA combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly re...
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Article
Open AccessTruncating mutation in NFIA causes brain malformation and urinary tract defects
Chromosome 1p32-p31 deletion syndrome involving the Nuclear factor I/A (NFIA) gene is characterized by corpus callosum hypoplasia or defects and urinary tract defects. Herein we report on a case resembling the 1p...
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Article
Semi-automatic volumetry of cortical tubers in tuberous sclerosis complex
The purpose of this study was to examine the relationship between the volume and number of tubers and the age at seizure onset in patients with tuberous sclerosis complex. We also examined the relationship bet...
