Caroline Nava
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View article: Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes
Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes Open
Genetic variants in RNU4-2 , which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) called ReNU syndrome. These variants, …
View article: The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis Open
Background Epileptic disorders are a heterogeneous group of neurological conditions, with many cases linked to monogenic causes, particularly in developmental and epileptic encephalopathies (DEE). Identifying pathogenic variants aids treat…
View article: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Open
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 5…
View article: Saturation genome editing of<i>RNU4-2</i>reveals distinct dominant and recessive neurodevelopmental disorders
Saturation genome editing of<i>RNU4-2</i>reveals distinct dominant and recessive neurodevelopmental disorders Open
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thousands of individuals worldwide 1,2 . RNU…
View article: O44: Genome sequencing as a first-tier prenatal diagnostic test
O44: Genome sequencing as a first-tier prenatal diagnostic test Open
Use of genome sequencing (GS) for the identification of monogenic disorders in fetuses with structural anomalies is known to increase the diagnostic yield. However, less is known about the yield in non-anomalous low risk cases undergoing s…
View article: P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders
P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders Open
A subset of multifactorial endocrine and metabolic disorders may be caused by rare monogenic disorders. However, next generation sequencing technologies are not widely used in the clinical diagnostic setting to identify monogenic causes of…
View article: Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism
Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism Open
Children from old fathers carry an increased risk for autism spectrum (ASD) and other neurodevelopmental disorders, which may at least partially be mediated by paternal age effects on the sperm epigenome. The brain enriched guanylate kinas…
View article: Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variants
Further characterisation of <i>ARX</i>-related disorders in females due to inherited or de novo variants Open
The Aristaless-related homeobox ( ARX ) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of ARX -related disorders is well described in males, from …
View article: Loss-of-function variants in <i>ZEB1</i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Loss-of-function variants in <i>ZEB1</i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosis Open
Background The neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous genes…
View article: Identification of copy number variants with genome sequencing: Clinical experiences from the <scp>NYCKidSeq</scp> program
Identification of copy number variants with genome sequencing: Clinical experiences from the <span>NYCKidSeq</span> program Open
Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first‐tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs…
View article: A transposase-derived gene required for human brain development
A transposase-derived gene required for human brain development Open
DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vert…
View article: Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome Open
[This corrects the article DOI: 10.5334/tohm.464.].
View article: Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome Open
Background Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genoty…
View article: A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism Open
Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) due to a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied using a canonical tran…
View article: Systematic analysis and prediction of genes associated with disorders on chromosome X
Systematic analysis and prediction of genes associated with disorders on chromosome X Open
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of …
View article: Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome Open
Additional file 2: Table S1. KCNK9 variants, impact summary, and ACMG classification.
View article: <i>PURA-</i> Related Developmental and Epileptic Encephalopathy
<i>PURA-</i> Related Developmental and Epileptic Encephalopathy Open
The PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized s…
View article: <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum Open
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-relate…
View article: <i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity Open
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported …
View article: Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders Open
Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30 -associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected thro…