ARF1-related disorder: phenotypic and molecular spectrum

J Med Genet. 2023 Apr 25:jmg-2022-108803. doi: 10.1136/jmg-2022-108803. Online ahead of print. ABSTRACT PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. […]

Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics

Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May. ABSTRACT BACKGROUND: The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset […]

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Mol Psychiatry. 2022 Nov 16. doi: 10.1038/s41380-022-01852-9. Online ahead of print. ABSTRACT Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public […]

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Genet Med. 2022 Aug 1:S1098-3600(22)00803-6. doi: 10.1016/j.gim.2022.06.001. Online ahead of print. ABSTRACT PURPOSE: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8 […]

Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study

Mov Disord. 2022 Apr 5. doi: 10.1002/mds.29006. Online ahead of print. ABSTRACT BACKGROUND: ADCY5-related dyskinesia is characterized by early-onset movement disorders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine. OBJECTIVE: The aim is to obtain further insight into the efficacy and safety of caffeine in patients […]

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

J Med Genet. 2022 Mar 1:jmedgenet-2021-108375. doi: 10.1136/jmedgenet-2021-108375. Epub ahead of print. PMID: 35232796. Abstract Background: A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome. Methods: We newly identified 17 patients with SOX4 variants, predicted variant pathogenicity […]

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022. ABSTRACT The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic odyssey or remain undiagnosed. Defining the […]

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Mol Genet Genomic Med. 2021 Jun 2:e1623. doi: 10.1002/mgg3.1623. Online ahead of print. ABSTRACT BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross-complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutated in CS. METHODS: A child with pre and postnatal growth […]

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A Gillentine Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. ABSTRACT BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes […]

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

J Inherit Metab Dis. 2021 Jan 14. doi: 10.1002/jimd.12360. Online ahead of print. ABSTRACT Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand […]

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