Publications by authors named "P Lastella"
Article Synopsis
- The study focuses on two siblings who inherited two new variants (N935Y and H1393Q) in the Nav1.1 sodium channel, leading to a drug-responsive neurological condition while their parents remain asymptomatic.
- Most variants in this channel are usually inherited heterozygously, but in this case, both siblings express a biallelic (two copies) inheritance pattern.
- Functional analyses of sodium currents show that these variants reduce channel activity by about 20%, potentially contributing to their illness, but also suggest that other factors could play a role in the disease's development.
Charcot-Marie-Tooth disease type 2P (CMT2P; MIM #614436) is a specific type of axonal neuropathy caused by mutations in the LRSAM1 gene, which is a RING-type E3 ubiquitin ligase. CMT2P can be inherited in two ways: as an autosomal dominant or autosomal recessive trait. In this report, we describe the clinical characteristics of a family with axonal sensory-motor neuropathy caused by a new variant of the LSRAM1 gene, which is associated with early-onset autosomal dominant CMT2P.
View Article and Find Full Text PDFBreast cancer (BC) is the most common cancer and the leading cause of cancer death in women worldwide. Since the discovery of the highly penetrant susceptibility genes and , many other predisposition genes that confer a moderate risk of BC have been identified. Advances in multigene panel testing have allowed the simultaneous sequencing of with these genes in a cost-effective way.
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- - Deleterious variants in collagen genes are a primary cause of hereditary connective tissue disorders (HCTD), and there's a need for better adaptations of existing classification criteria by ACMG/AMP.
- - A multidisciplinary team developed tailored ACMG/AMP specifications for key collagen genes, effectively classifying pathogenic variants, particularly focusing on null alleles and certain glycine substitutions.
- - The new criteria aim to clarify the interpretation of genetic variants in HCTD, helping reduce ambiguities and improving the clinical application of molecular testing by fostering better collaboration between labs and clinicians.
Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of phenotypic heterogeneity exists even when the same gene is affected.
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