A5034455248- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- Hedgehog Signaling Pathway Studies
- Medical Imaging and Pathology Studies
- Genetic Syndromes and Imprinting
- Congenital Anomalies and Fetal Surgery
- Ion channel regulation and function
- Prenatal Screening and Diagnostics
- Cerebrospinal fluid and hydrocephalus
- ATP Synthase and ATPases Research
- Spinal Dysraphism and Malformations
- Genomic variations and chromosomal abnormalities
- Teratomas and Epidermoid Cysts
- Epigenetics and DNA Methylation
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Renal and related cancers
- Cardiomyopathy and Myosin Studies
- Cellular transport and secretion
- Pregnancy and preeclampsia studies
- Protist diversity and phylogeny
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Trypanosoma species research and implications
- Genomics and Rare Diseases
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2024
University of Pavia
2021-2024
Istituto Giannina Gaslini
2024
Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, mitochondrial disorders play an important role its etiopathogenesis pediatric patients. We here describe a new case apparently isolated due assembly factor gene NDUFAF1 biallelic variants (c.631C > T intragenic deletion encompassing exon 3, NM_016013.4). Alterations this...
Background Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and unique cerebellar brainstem malformation. Over 40 JS-associated genes are known with diagnostic yield of 60%–75%. In 2018, we reported homozygous hypomorphic missense variants the SUFU gene in two families mild JS. Recently, heterozygous truncating were identified dominantly COMA,...
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants the ITPR1 are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), Gillespie syndrome. Cerebellar atrophy/hypoplasia invariably detected, but a recognizable neuroradiological pattern has not been identified...
Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases.While most variants novel or extremely rare, we report on 11 recurring in seven genes, including three known 'founder variants' Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies ~550 European patients with JS compared them controls (>15 000 Italian...
Abstract Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This study aims to increase the diagnostic yield by uncovering cryptic variants through targeted ES reanalysis. We first focused on 26 in whom only disclosed heterozygous pathogenic coding JS gene. reanalyzed raw data searching for copy number (CNVs) and intronic affecting splicing. validated CNVs real-time PCR or chromosomal...
To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period patients calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders.In this international multicentre retrospective study, we contacted a CASK parents' social media group colleagues expertise malformations asked them to supply clinical imaging information. Centiles standard deviations (SD) were calculated according age by nomograms.The study consisted of 49 (44...
Abstract Aim To describe visual function in children with Joubert syndrome and to investigate its possible association diagnostic developmental aspects. Method This retrospective cross‐sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 3 range 4 months 23 years) diagnosed from January 2002 December 2020. Data about clinical (neurological, neuro‐ophthalmological, developmental/cognitive) (e.g. genetic testing, neuroimaging, systemic involvement)...
<h3>ABSTRACT</h3> <h3><i>Background and purpose:</i></h3> Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported investigated in the literature. It can be observed as an isolated finding, but it has been mainly context of cerebellar dysgenesis syndromic conditions. The aim this study to provide comprehensive neuroradiological, clinical, genetic characterization cohort pediatric patients with heterotopia. <h3><i>Materials methods:</i></h3> Patients diagnosis CH were...
Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign a peculiar cerebellar brainstem malformation known as the ‘molar tooth sign’. Recessive pathogenic variants in HYLS1 gene are associated hydrolethalus (HLS), severe disorder characterised by multiple developmental defects leading to intrauterine or perinatal death. However, biallelic were also reported three individuals JS. Here, we report fourth patient...