A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103969
Abstract: We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11A-related intellectual disability/Dias-Logan syndrome due to a de novo, heterozygous variant in the BCL11A gene, NM_018014.3:c.148C > T; p.(Gln50*). A missense… read more here.
Keywords: intellectual disability; related intellectual; missense variant; secondary finding ... See more keywords
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2018.00252
Abstract: Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). While… read more here.
Keywords: intellectual disability; snf related; related intellectual; swi snf ... See more keywords
Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Brain Sciences"
DOI: 10.3390/brainsci11091229
Abstract: Neurodevelopmental disorders are frequently associated with sleep disturbances. One class of neurodevelopmental disorders, the genetic synaptopathies, is caused by mutations in genes encoding proteins found at the synapse. Mutations in these genes cause derangement of… read more here.
Keywords: intellectual disability; syngap1 related; related intellectual; sleep abnormalities ... See more keywords