Carrier screening for spinal muscular atrophy in Italian population

2014

Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

Brain Morphometry and Psychobehavioural Measures in Autistic Low-Functioning Subjects

1997

In the last two decades neurological research has significantly increased knowledge on the neuroanatomic bases of autism. Several autopsy and quantitative magnetic resonance imaging (MRI) studies have reported central nervous system (CNS) abnormalities which may underlie the social, language and cognitive dysfunction typical of the autistic disorder.Despite the wealth of evidence that the “autistic brain” is different from normal in a number of structures, the relationship between the severity of the developmental impairment in autism and the degree of the brain abnormality remains unknown.The aim of the present study is to correlate the areas of some brain regions, as calculated on the bas…

Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic

2021