Neurodevelopmental disorder with dystonia due to SOX6 mutations
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2051
Abstract: Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, read more here.
Keywords: neurodevelopmental disorder; dystonia due; due sox6; disorder dystonia ... See more keywords
Prenatal Diagnosis of SMPD4 loss - a neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6324
Abstract: SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the… read more here.
Keywords: smpd4 loss; neurodevelopmental disorder; loss; arthrogryposis ... See more keywords
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
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
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
Sign Up to like & getrecommendations! Published in 2022 at "Human genetics"
DOI: 10.1007/s00439-022-02433-0
Abstract: Glycosylphosphatidylinositol (GPI) functions to anchor certain proteins to the cell surface. Although defects in GPI biosynthesis can result in a wide range of phenotypes, most affected patients present with neurological abnormalities and their diseases are grouped… read more here.
Keywords: hypotonia contractures; disorder hypotonia; c18orf32; gpi ... See more keywords
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.007
Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth… read more here.
Keywords: cause syndromic; zmiz1 variants; variants cause; zmiz1 ... See more keywords
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.09.004
Abstract: SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de… read more here.
Keywords: scn3a pathogenic; disorder associated; disorder; novo scn3a ... See more keywords
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
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
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00985-9
Abstract: ITSN1 plays an important role in brain development. Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the… read more here.
Keywords: development; neurodevelopmental disorder; gene; gene involved ... See more keywords
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
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
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene
Sign Up to like & getrecommendations! Published in 2017 at "Nucleosides, Nucleotides and Nucleic Acids"
DOI: 10.1080/15257770.2016.1267361
Abstract: ABSTRACT We report a patient, an infant with a neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing of genomic DNA revealed… read more here.
Keywords: gene; app gene; antigen domain; neurodevelopmental disorder ... See more keywords
Is Parkinson's Disease a Neurodevelopmental Disorder and Will Brain Organoids Help Us to Understand It?
Sign Up to like & getrecommendations! Published in 2018 at "Stem cells and development"
DOI: 10.1089/scd.2017.0289
Abstract: Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. The incidence of PD cases increases with age, accordingly classically PD is considered to be an age-associated neurodegenerative disease. In this review,… read more here.
Keywords: disease; pathology; brain organoids; parkinson disease ... See more keywords