Dominique Bonneau
YOU?
Author Swipe
View article: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition Open
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SMARCA5 or SMARCA1 ISWI-chromatin remodeling enzyme. Pathogen…
View article: Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder Open
Our results establish XPO1 as a novel dominant monogenic neurodevelopmental disorder gene and demonstrate a central role for XPO1 in development.
View article: Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS Open
Background Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 5…
View article: <i>HCN2</i>‐Associated Neurodevelopmental Disorders: Data from Patients and <i>Xenopus</i> Cell Models
<i>HCN2</i>‐Associated Neurodevelopmental Disorders: Data from Patients and <i>Xenopus</i> Cell Models Open
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2 , encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated…
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: Reduced AKT activation accompanied with high TP53 expression is implicated in the impaired hematogenesis in Ziegler-Huang syndrome and the Znt7 null mice partially recapitulates the human disease linked to pancytopenia
Reduced AKT activation accompanied with high TP53 expression is implicated in the impaired hematogenesis in Ziegler-Huang syndrome and the Znt7 null mice partially recapitulates the human disease linked to pancytopenia Open
Excessive expression of TP53 and down-regulation of AKT activation induced by ZNT7 deficiency might impair cell survival, which may contribute to the pathophysiology of bone marrow failure in affected individuals with BMF8.
View article: ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Open
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. T…
View article: The phenotypic spectrum of <i>CEP250</i> gene variants
The phenotypic spectrum of <i>CEP250</i> gene variants Open
CEP250 pathogenic variants are associated with post-lingual SNHL, and most often progressive photoreceptor dysfunction. The disease may begin with ocular features or hearing loss. We strongly recommend genetic analysis of classical and aty…
View article: Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretation
Classification of <i>PTEN</i> germline non-truncating variants: a new approach to interpretation Open
Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from PTEN pathogenic variants. Missense variants account for 30% of PHTS cases, but their classification remains challengi…
View article: Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Loss‐of‐Function Variants in <span><i>CUL3</i></span> Cause a Syndromic Neurodevelopmental Disorder Open
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying …
View article: Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency Open
The study demonstrates the prevalence of neurologic presentation and the extent of central, peripheral, and autonomous nervous system involvement in 60% of patients. Most of the patients with early onset and rapidly fatal hepatic failure d…
View article: Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction
Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction Open
An individual carrying the de novo heterozygous variant c.1458G>T p.(E486D) in GUCY1A2 was identified by exome sequencing. The effect of the corresponding enzyme variant a 2E486D/b 1 was evaluated using concentration-response measurements …
View article: Mono and biallelic variants in<i>HCN2</i>cause severe neurodevelopmental disorders
Mono and biallelic variants in<i>HCN2</i>cause severe neurodevelopmental disorders Open
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy.…
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition Open
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H ( SMARCA5 ) or SNF2L ( SMARCA1 ) ISWI-chromatin remodel…
View article: Unsuspected consequences of synonymous and missense variants in <i>OCA2</i> can be detected in blood cell RNA samples of patients with albinism
Unsuspected consequences of synonymous and missense variants in <i>OCA2</i> can be detected in blood cell RNA samples of patients with albinism Open
Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin, as well as severe visual abnor…
View article: Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders Open
Background Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs decrease, genome sequencing (GS) is …
View article: Unsuspected consequences of synonymous and missense variants in<i>OCA2</i>can be detected in blood cell RNA samples of patients with albinism
Unsuspected consequences of synonymous and missense variants in<i>OCA2</i>can be detected in blood cell RNA samples of patients with albinism Open
Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin as well as severe visual abnorm…
View article: Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder
Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder Open
Purpose De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare …
View article: Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool Open
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first F…
View article: Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders Open
Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed wit…
View article: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Open
Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nucl…
View article: Identification of novel compound heterozygous variants in the <i>SLC30A7</i> (<i>ZNT7</i>) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure
Identification of novel compound heterozygous variants in the <i>SLC30A7</i> (<i>ZNT7</i>) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure Open
Zinc is an essential trace mineral. Dietary zinc deficiency results in stunted growth, skin lesions, hypogonadism and frequent infections in humans. Mice genetically lacking Slc30a7 suffer from mild zinc deficiency and are prone to develop…