MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
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DOI: 10.1007/s00439-021-02383-z
Abstract: Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders… read more here.
Keywords: clinical molecular; associated neurodevelopmental; disorder description; disorder ... See more keywords
Perinatal exposure to pesticides alters synaptic plasticity signaling and induces behavioral deficits associated with neurodevelopmental disorders.
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DOI: 10.1007/s10565-022-09697-2
Abstract: Increasing evidence from animal and epidemiological studies indicates that perinatal exposure to pesticides cause developmental neurotoxicity and may increase the risk for psychiatric disorders such as autism and intellectual disability. However, the underlying pathogenic mechanisms… read more here.
Keywords: exposure pesticides; associated neurodevelopmental; neurodevelopmental disorders; exposure ... See more keywords
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
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DOI: 10.1038/s41431-019-0552-9
Abstract: We report here a de novo missense variant in HIST1H4J resulting in a complex syndrome combining growth delay, microcephaly and intellectual disability. Trio whole exome sequencing (WES) revealed that the proband was heterozygous for a… read more here.
Keywords: associated neurodevelopmental; hist1h4j; hist1h4c associated; hist1h4j gene ... See more keywords
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes
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DOI: 10.1038/s41598-021-90798-z
Abstract: MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding domain 5, MBD5, in neurodevelopment and ASD remains… read more here.
Keywords: associated neurodevelopmental; mbd5 associated; autism; disorder ... See more keywords
Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
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DOI: 10.1093/hmg/ddac200
Abstract: De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND).… read more here.
Keywords: neurodevelopmental disorders; expression; associated neurodevelopmental; deaf1 ... See more keywords
Genes essential for embryonic stem cells are associated with neurodevelopmental disorders
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DOI: 10.1101/gr.250019.119
Abstract: Mouse embryonic stem cells (mESCs) are key components in generating mouse models for human diseases and performing basic research on pluripotency, yet the number of genes essential for mESCs is still unknown. We performed a… read more here.
Keywords: genes essential; associated neurodevelopmental; embryonic stem; stem cells ... See more keywords
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
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DOI: 10.1212/nxg.0000000000000579
Abstract: Objective To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and… read more here.
Keywords: mbd5 associated; associated neurodevelopmental; neurodevelopmental disorder; phenotypic spectrum ... See more keywords