Publications by authors named "F T Kok"
Article Synopsis
- Brain development involves the coordinated growth of structures necessary for forming neural circuits, with the corpus callosum being a crucial connection between brain hemispheres.
- Defects in the growth process, particularly in the development of callosal projection neurons, can lead to syndromic corpus callosum dysgenesis (CCD) and are associated with other conditions like microcephaly.
- The study identifies WDR47 as a key gene responsible for survival of callosal neurons and highlights its role in mitochondrial and microtubule maintenance, suggesting that mutations in this gene lead to a new neurodevelopmental syndrome involving corpus callosum abnormalities.
Background/objectives: KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of a genome methylation episignature methodology to functionally validate two variants of uncertain significance (VUS) in the KMT2B gene.
Methods: Genome-wide methylation status was assessed using the EPIC methylation assay in peripheral blood samples from two subjects with early onset movement disorder and missense variants of uncertain significance in the KMT2B gene (p.
Article Synopsis
- The study reports on nine new cases of Ceroid lipofuscinosis type 11 (CLN11) from Latin American families, a rare disease with previously limited documentation.
- Patients showed slow disease progression, with symptoms including visual impairment, seizures, and cognitive decline, starting between ages 3 and 17.
- The findings highlight a potential diagnostic clue for CLN11 and include two specific genetic variants associated with the condition.
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.
Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.
Article Synopsis
- A recent study analyzed 38 patients with cerebrotendineous xanthomatosis (CTX) across six genetics centers in Brazil, marking the largest CTX case series in South America.
- The study identified 13 variants in the CYP27A1 gene, including three not previously reported, and highlighted cataracts as the most common initial symptom of CTX in the Brazilian cohort.
- The research also found a correlation between the age of onset of neurological symptoms and the age when patients lose the ability to walk, with a median gap of about 10 years.