A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Genetic illnesses can be passed down from parents to children through markers in their DNA. Some diseases, such as Silver-Russel Syndrome (SRS), also depend on what parent you are inheriting this marker from. For example, inheriting the marker from your mother might be harmless but inheriting it from your father could cause disease. This is […]

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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Whole genome sequencing (WGS) is a technique to determine every letter of DNA for an individual. The UK 100,000 Genomes Project (100K) performed WGS for NHS patients with rare diseases, including a group of genetic disorders called ciliopathies. Here, Best et al. analysed WGS data from ciliopathy patients in 100K using a reverse phenotyping strategy. […]

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Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Arthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital joint contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC. We describe and analyze the diagnostic process of 125 children with AMC. Using these data and data from the literature, we set up evidenced-based recommendations for the […]

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Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants

Cowden syndrome is a genetic disorder related to germline PTEN variants and characterized by increased risk of cancers. These patients sometimes show behaviors considered as maladapted to social norms and conventions. We collected data on 15 patients from a single center in France. We analyzed their abilities in social cognition, considered as cognitive processes involved […]

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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Mucopolysaccharidoses (MPS) are a group of genetic disorders where cells show progressive storage of protein-sugar-containing molecules. So far, nine different types of MPS have been described with various involvement of organs and skeleton, depending on the underlying genetic defect. We have identified a novel MPS subtype, i.e., subtype X, caused by pathogenic variants in the […]

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Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway

We found that the phenotype of dilated cardiomyopathy results from the interaction of genetic mutations (SCN5A R225Q variant) and environmental factors (age and other pathogenic factors), and elucidated the underlying pathogenic mechanism (elevated intercellular pH and WNT/β-catenin pathway activation). Therefore, for patients with dilated cardiomyopathy carrying some cardiac sodium channel gene mutations which might cause […]

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The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness

People with the FMR1 premutation are at increased risk to develop a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome, FXTAS), reproductive health problems (in females), and potentially a range of other mental and general health conditions. This paper introduces the International Fragile X Premutation Registry (IFXPR), developed to facilitate research to better understand the premutation and its impact […]

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Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study

Family history of ovarian cancer is a strong risk factor for the disease. We observed that ovarian cancer risk is highest among women whose family members have specific types of ovarian cancer. We also described how,  as preventative surgery became more routinely recommended over time for women with an increased risk of ovarian cancer due […]

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ARMC12 mutations-a novel mechanism for human multiple midpiece-specific defects and asthenozoospermia

Asthenozoospermia is a common pathogenesis of male infertility. The motility of spermatozoa is based on the presence of an intact flagellum and an adequate energy supply. The midpiece of the human spermatozoa consists of the axoneme and the outer wrapped mitochondrial sheath, which is essential for sperm motility. Here, we identified bi-allelic ARMC12 mutations from […]

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Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing

Inherited mutations in PALB2 are the most common cause of familial breast cancer after BRCA1 and BRCA2 but it is possible that current clinical genetic testing might be missing some cancer-causing mutations.  For BRCA1 and BRCA2 many of the cancer-causing mutations involve changes in large sections of these genes (called large genomic rearrangements or LGRs) […]

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