De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
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DOI: 10.1038/s41436-018-0014-8
Abstract: PurposeWolf–Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility… read more here.
Keywords: phenotype; truncating variants; microdeletion syndrome; microdeletion ... See more keywords
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
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DOI: 10.1038/s41436-018-0143-0
Abstract: PurposeDevelopmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and genetically heterogeneous, next-generation sequencing, especially… read more here.
Keywords: truncating variants; variants intronless; irf2bpl responsible; novo truncating ... See more keywords
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
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DOI: 10.1055/s-0038-1651526
Abstract: Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype… read more here.
Keywords: novo truncating; mutation kat6a; movement disorder; truncating mutation ... See more keywords