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View article: DDX3X syndrome: a multicenter genotype-phenotype study
DDX3X syndrome: a multicenter genotype-phenotype study Open
DDX3X dysfunction causes an X-linked multisystem disorder with high penetrance and variable expressivity. The phenotypic spectrum spans from learning disability without somatic involvement to profound intellectual disability with severe im…
View article: Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes Open
Our findings reinforce the critical role of RNU4-2 variants in syndromic NDDs and underscore the importance of noncoding regions in genetic diagnoses. These findings show that RNU4-2 variants account for approximately 2.9% of…
View article: A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders
A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders Open
Genetic studies have identified numerous candidate genes for neurodevelopmental disorders associated with intellectual disability (ID) and autism spectrum disorders (ASD). Some genetic anomalies are very rare or challenging to detect, maki…
View article: Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge Open
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of…
View article: Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations Open
Background/Objectives: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with v…
View article: Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge
Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge Open
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of…
View article: Monoallelic <i>de novo</i> variants in <i>DDX17</i> cause a neurodevelopmental disorder
Monoallelic <i>de novo</i> variants in <i>DDX17</i> cause a neurodevelopmental disorder Open
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case series of 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic v…
View article: Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases Open
View article: Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype
Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype Open
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides‐Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disabi…
View article: Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with <scp><i>NAA15</i></scp> Variant
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with <span><i>NAA15</i></span> Variant Open
NAA15 gene encodes for a protein involved in amino-terminal acetylation of cytosolic proteins. Patients with NAA15 variants show variable levels of intellectual disability, dysmorphic features, cardiac and visual anomalies, and movement di…
View article: Risk of Major Congenital Malformations and Exposure to Antiseizure Medication Monotherapy
Risk of Major Congenital Malformations and Exposure to Antiseizure Medication Monotherapy Open
Importance Women with epilepsy (WWE) require treatment with antiseizure medications (ASMs) during pregnancy, which may be associated with an increased risk of major congenital malformations (MCMs) in their offspring. Objective To investiga…
View article: Monoallelic<i>de novo</i>variants in<i>DDX17</i>cause a novel neurodevelopmental disorder
Monoallelic<i>de novo</i>variants in<i>DDX17</i>cause a novel neurodevelopmental disorder Open
Introduction DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we identified 11 patients with neurodevelopmental phenotypes with de novo monoallelic variants …
View article: Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review Open
Snijders Blok–Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients …
View article: Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus Open
Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus…
View article: Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients
Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients Open
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. Understanding the genetic causes of ND…
View article: Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants
Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants Open
Background Investigating copy number variations (CNVs) such as microdeletions or microduplications can significantly contribute to discover the aetiology of neurodevelopmental disorders. 15q11.2 genomic region, including NIPA1 and NIPA2 ge…
View article: Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm Open
We recently investigated the role of the cerebellum during development, reporting that children with genetic slow-progressive ataxia (SlowP) show worse postural control during quiet stance and gait initiation compared to healthy children (…
View article: Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i> -Related Syndrome
Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i> -Related Syndrome Open
EBF3-related syndrome has been so far described as a neurodevelopmental condition with dysmorphic traits, with limited emphasis on the neurologic features; we highlight the predominant neurologic involvement of these patients, which…
View article: Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant
Periventricular heterotopia in a male child with <span><i>USP9X</i></span> missense variant Open
The ubiquitin‐specific protease USP9X has been found to play a role in multiple aspects of neural development including processes of neuronal migrations. In males, hemizygous partial loss of function variants in USP9X lead to a clinical ph…
View article: Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants Open
View article: Phenotypic spectrum of the recurrent <i>TRPM3</i> p.(<scp>Val837Met</scp>) substitution in seven individuals with global developmental delay and hypotonia
Phenotypic spectrum of the recurrent <i>TRPM3</i> p.(<span>Val837Met</span>) substitution in seven individuals with global developmental delay and hypotonia Open
TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons of the dorsal root ganglia. The recurrent substitution in TRPM3 : c.2509G>A, p.…
View article: Review for "Clinical and molecular delineation of PUS3 ‐associated neurodevelopmental disorders"
Review for "Clinical and molecular delineation of PUS3 ‐associated neurodevelopmental disorders" Open
View article: Review for "Clinical and molecular delineation of PUS3 ‐associated neurodevelopmental disorders"
Review for "Clinical and molecular delineation of PUS3 ‐associated neurodevelopmental disorders" Open
View article: Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy Open
View article: A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children Open
Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic defect. Most of the papers proposing a diagnostic workup for pediatric ataxias ar…
View article: Clinical, Cognitive and Behavioural Assessment in Children with Cerebellar Disorder
Clinical, Cognitive and Behavioural Assessment in Children with Cerebellar Disorder Open
Cerebellar disorders are characterised clinically by specific signs and symptoms, often associated with neurodevelopmental disorder. While the clinical signs of cerebellar disorders are clearly recognisable in adults and have a precise ana…
View article: Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay Open
Objective: To establish and broaden the phenotypic spectrum of secretory carrier membrane protein ( SCAMP5) associated with epilepsy and neurodevelopmental delay. Methods: A Chinese patient was identified at the First Hospital of Peking Un…
View article: Expanding the PURA syndrome phenotype: A child with the recurrent <i>PURA</i> p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Expanding the PURA syndrome phenotype: A child with the recurrent <i>PURA</i> p.(Phe233del) pathogenic variant showing similarities with cutis laxa Open
Background PURA syndrome is rare autosomal dominant condition characterized by moderate to severe neurodevelopmental delay with absence of speech in nearly all patients and lack of independent ambulation in many. Early‐onset problems inclu…
View article: Table of Contents, Volume 182A, Number 10, October 2020
Table of Contents, Volume 182A, Number 10, October 2020 Open
View article: Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA) Open
Homozygous and compound heterozygous mutations in GNB5 gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe development…