Details
- Autor(en) / Beteiligte
- Titel
- Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder
- Ist Teil von
- Genes, 2024-04, Vol.15 (4), p.423
- Ort / Verlag
- Switzerland: MDPI AG
- Erscheinungsjahr
- 2024
- Link zum Volltext
- Quelle
- Electronic Journals Library
- Beschreibungen/Notizen
- Pathogenic variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep differences. Here, we review previously published individuals with pathogenic variants and report three further probands with novel variants and previously unreported phenotypic features, including mixed receptive language disorder and gait disturbances. These novel data from the Brain Gene Registry, an accessible repository of clinically derived genotypic and phenotypic data, have allowed for the expansion of the phenotypic and genotypic spectrum of this condition.
- Sprache
- Englisch
- Identifikatoren
- eISSN: 2073-4425DOI: 10.3390/genes15040423Titel-ID: cdi_doaj_primary_oai_doaj_org_article_94027c3a7577418195ffa81928bb0a79
- Format
- –
- Schlagworte
- Adolescent, ASH1L, Astigmatism, Attention deficit hyperactivity disorder, Autism, autism spectrum disorder, Autism Spectrum Disorder - genetics, Autism Spectrum Disorder - pathology, Behavior, Child, Child, Preschool, Congenital defects, DNA-Binding Proteins - genetics, Electronic health records, Enrollments, Female, Genes, Genotype, Hearing loss, histone methyltransferase, Histone-Lysine N-Methyltransferase - genetics, Humans, Intellectual disabilities, intellectual disability, Intellectual Disability - genetics, Intellectual Disability - pathology, Male, Mutation, neurodevelopmental disorder, Neurodevelopmental disorders, Neurodevelopmental Disorders - genetics, Neurodevelopmental Disorders - pathology, Phenotype, Seizures, Sleep disorders, syndromic complex neurodevelopmental disorder, Transcription Factors - genetics