De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26485
Abstract: Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma‐aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo… read more here.
Keywords: slc32a1 cause; missense variants; novo missense; variants slc32a1 ... See more keywords
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.682
Abstract: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. read more here.
Keywords: individual carrying; novo missense; missense variant; retinal dystrophy ... See more keywords
POGZ de novo missense variants in neuropsychiatric disorders
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.900
Abstract: De novo likely gene‐disrupting variants of POGZ cause autism spectrum disorder (ASD) and intellectual disability. However, de novo missense variants of this gene were not well explored in neuropsychiatric disorders. read more here.
Keywords: missense variants; novo missense; variants neuropsychiatric; pogz novo ... See more keywords
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2019.02.006
Abstract: The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or CDK19 kinases, together with cyclin C,… read more here.
Keywords: syndromic developmental; cause; mediator; novo missense ... See more keywords
A recurrent de novo missense mutation in UBTF causes developmental neuroregression
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy049
Abstract: UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns… read more here.
Keywords: recurrent novo; genetics; novo missense; mutation ubtf ... See more keywords
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17188
Abstract: Variants in γ‐aminobutyric acid A (GABAA) receptor genes cause different forms of epilepsy and neurodevelopmental disorders. To date, GABRA4, encoding the α4‐subunit, has not been associated with a monogenic condition. However, preclinical evidence points toward… read more here.
Keywords: gabra4; function; variant gabra4; missense variant ... See more keywords
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107137
Abstract: Objective To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes. Methods Here we describe a series of de novo missense variants in LMBRD2 in 10 unrelated… read more here.
Keywords: missense variants; lmbrd2 associated; novo missense; developmental motor ... See more keywords
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107462
Abstract: Purpose Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2… read more here.
Keywords: missense variants; intellectual disability; novo missense; variants gnb2 ... See more keywords
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Synaptic Neuroscience"
DOI: 10.3389/fnsyn.2021.634760
Abstract: This review summarizes our current knowledge of human disease-relevant genetic variants within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide spectrum of diseases including epilepsies, autism spectrum disorders, intellectual disabilities, developmental… read more here.
Keywords: novo missense; loss function; gated ca2; missense mutations ... See more keywords