Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Alport syndrome is a rare genetic kidney disease caused by variants in the COL4A3/A4/A5 genes. It's characterised by progressive kidney failure, though therapies targeting Renin-Angiotensin System can delay its progression. Additionally, extrarenal manifestations may sometimes coexist.

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.

We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in background, she developed a squamous cell carcinoma in the right affected leg which was treated surgically.

Liver Involvement in Patients with Rare Variants and Intellectual Disability: A Case Report and Literature Review.

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility.

Occupational heat stress, heat-related effects and the related social and economic loss: a scoping literature review.

Introduction: While there is consistent evidence on the effects of heat on workers' health and safety, the evidence on the resulting social and economic impacts is still limited. A scoping literature review was carried out to update the knowledge about social and economic impacts related to workplace heat exposure.

Methods: The literature search was conducted in two bibliographic databases (Web of Science and PubMed), to select publications from 2010 to April 2022.

Development of a Prototype Observatory of Heat-Related Occupational Illnesses and Injuries through the Collection of Information from the Italian Press, as Part of the WORKLIMATE Project.

Exposure to heat is a recognized occupational risk factor. Deaths and accidents at work caused by high temperatures are underestimated. With the aim of detecting and monitoring heat-related illnesses and injuries, a prototype database of occupational events attributable to critical thermal conditions reported in Italian newspapers was created.

Corrigendum: Spondyloocular syndrome: A novel variant with description of the neonatal phenotype.

[This corrects the article DOI: 10.3389/fgene.2021.

Academic achievement: the effect of project-based online learning method and student engagement.

The commitment of higher education to produce job-ready and highly competitive graduates requires that it endow graduates with broad knowledge and innovative technologies, including business skills facing various challenges of project-based digital learning for future achievement. The study aimed to analyze the effect of Project-Based Online Learning (PBOL) and student engagement on academic achievement. The research method used a mixed-method convergent parallel design.

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this study was to describe a large family with 12 members affected by bipolar disorder.

, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes , and have been associated with neurological disorders; however, gene-variants have not been associated with any human disorder. This is the first report that associates gene variants (ENSG00000137877: c.

Identification of a Novel Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.

Genetic defects in the SHANK2 gene, encoding for synaptic scaffolding protein, are associated with a variety of neurodevelopmental conditions, including autism spectrum disorders and mild to moderate intellectual disability. Until now, limited patient clinical descriptions have been published. Only 13 unrelated patients with SHANK2 pathogenic variations or microdeletions have been reported worldwide.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA.

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD.

Spondyloocular Syndrome: A Novel Variant with Description of the Neonatal Phenotype.

Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay.

13q Deletion Syndrome Involving : Characterization of a New Minimal Critical Region for Psychomotor Delay.

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms.

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

[This corrects the article DOI: 10.3389/fonc.2021.

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants associated with these two entities that often co-exist.

Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines.

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT).

Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.

Malignant ovarian germ cell tumors (MOGCTs) are neoplasms of the ovary, of which, due to their rarity and heterogeneity, few is reported about genetic background and development. Here, we report a 18-years old patient diagnosed with an ovarian mixed germ cell tumor, without any previous history of malignancies, who has been treated with surgery and chemotherapy and died 4 years later due to peritoneal metastasis complications. Patient's blood DNA was screened for a panel of 52 cancer-related genes in order to identify predisposing aberrations to this rare cancer.