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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
TLDR
Findings suggest that haploinsufficiency of STXBP1 causes early infantile epileptic encephalopathy with suppression-burst, and that a mutant form of the protein was significantly thermolabile compared to wild type. Expand
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunitExpand
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
TLDR
Findings provide direct evidence that an autophagy defect is indeed associated with a neurodegenerative disorder in humans. Expand
Hedgehog signaling is involved in development of the neocortex
TLDR
The data indicate that Shh signaling plays an important role in development of the neocortex and reduced Shh immunoreactivity in mutant dorsal telencephalons supports the above phenotypes. Expand
Human genetic variation database, a reference database of genetic variations in the Japanese population
TLDR
The results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants and constructed a Japanese-specific major allele reference genome, by which the number of unique mapping of the short reads in the data has increased 0.045% on average. Expand
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
TLDR
Screening of KLHL40 should be a priority in individuals who are affected by autosomal-recessive NEM and who present with prenatal symptoms and/or contractures and in all Japanese individuals with severe NEM. Expand
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
TLDR
This study confirmed that SCN2A mutations are an important genetic cause of Ohtahara syndrome, and genetic testing for SCN1A should be considered for children with different epileptic conditions. Expand
MLL2 and KDM6A mutations in patients with Kabuki syndrome
TLDR
High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group, and short stature and postnatal growth retardation were observed in all individuals with KDM 6A mutations, but in only half of the group with M LL2 mutations. Expand
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
TLDR
The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy. Expand
Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome
TLDR
Interestingly, DS of decorin proteoglycan, a key regulator of collagen fibril assembly, was completely lost and replaced by chondroitin sulfate in the patients' fibroblasts, leading to decreased flexibility of GAG chains. Expand
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