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| Verfasst von: | Burkart, Sebastian [VerfasserIn]  |
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| | Spanjaard, Melanie [VerfasserIn] |
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| | Kaufmann, Lilian [VerfasserIn] |
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| | Hinderhofer, Katrin [VerfasserIn] |
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| | Schaaf, Christian P. [VerfasserIn] |
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| | Ries, Markus [VerfasserIn] |
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| | Hempel, Maja [VerfasserIn] |
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| Titel: | Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum |
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| Titelzusatz: | a case report |
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| Verf.angabe: | Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel |
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| E-Jahr: | 2025 |
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| Jahr: | 18 June 2025 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 23.06.2025 |
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| Titel Quelle: | Enthalten in: American journal of medical genetics |
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| Ort Quelle: | New York, NY : Wiley-Liss, 2003 |
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| Jahr Quelle: | 2025 |
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| Band/Heft Quelle: | (2025), online version of record before inclusion in an issue, Artikel-Nummer e64144, Seite 1-5 |
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| ISSN Quelle: | 1552-4833 |
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| Abstract: | KDM1A-related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra-rare autosomal dominant disorder is limited. Here, we report on a 13-year-old boy with a novel heterozygous, likely pathogenic germline missense variant in exon 16 of KDM1A with developmental delay, hypotonia, mild intellectual disability, and unspecific facial features but without palate abnormalities. Notably, this first reported individual without palate abnormalities highlights the variable expressivity of this feature in the KDM1A-related phenotype. Furthermore, this case report expands knowledge on the phenotypic spectrum, including intellectual disability with global developmental delay, muscular hypotonia, and variable dysmorphic anomalies, highlighting the value of individual case studies in clinical research. |
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| DOI: | doi:10.1002/ajmg.a.64144 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1002/ajmg.a.64144 |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.64144 |
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| | DOI: https://doi.org/10.1002/ajmg.a.64144 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | autosomal-dominant neurodevelopmental disorder characterized by cleft palate and distinctive facial features (OMIM #616728) |
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| | case report |
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| | CPRF |
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| | KDM1A |
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| | psychomotor retardation |
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| K10plus-PPN: | 1928853196 |
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| Verknüpfungen: | → Zeitschrift |
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Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum / Burkart, Sebastian [VerfasserIn]; 18 June 2025 (Online-Ressource)
