دورية أكاديمية

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

التفاصيل البيبلوغرافية
العنوان: Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders
المؤلفون: Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
بيانات النشر: BMC, 2024.
سنة النشر: 2024
المجموعة: LCC:Internal medicine
LCC:Genetics
مصطلحات موضوعية: TAOK1, Periventricular nodular heterotopia, PVNH, PNH, Neuronal migration disorders, Macrocephaly, Internal medicine, RC31-1245, Genetics, QH426-470
الوصف: Abstract Background Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain development. Heterozygous variants in TAOK1 have been reported in children with neurodevelopmental disorders, with or without macrocephaly, hypotonia and mild dysmorphic traits. Literature reports lack evidence of neuronal migration disorders in TAOK1 patients, although studies in animal models suggest this possibility. Case presentation We provide a clinical description of a child with a neurodevelopmental disorder due to a novel TAOK1 truncating variant, whose brain magnetic resonance imaging displays periventricular nodular heterotopia. Conclusions To our knowledge, this is the first report of a neuronal migration disorder in a patient with a TAOK1-related neurodevelopmental disorder, thus supporting the hypothesized pathogenic mechanisms of TAOK1 defects.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1755-8794
Relation: https://doaj.org/toc/1755-8794
DOI: 10.1186/s12920-024-01840-8
URL الوصول: https://doaj.org/article/5beec6055b924a6e98b954d1773212b0
رقم الأكسشن: edsdoj.5beec6055b924a6e98b954d1773212b0
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17558794
DOI:10.1186/s12920-024-01840-8