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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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) […]
Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum
Xeroderma Pigmentosum (XP) is a genetic disease in which the system which repairs ultraviolet-induced damage is faulty. Patients develop eye and skin cancers from childhood and usually die in early adulthood. The main way to prevent the cancers and increase lifespan is extreme protection against ultraviolet in daylight, particularly for the face where the cancers […]
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
Precise diagnosis of the patients with neuromuscular disorders (NMD) has been hampered by the presence of many genetic loci that may give rise to heterogeneous symptoms. To enhance diagnostic yield and to further understand genetic mechanism underlying NMD, we sequenced RNA from muscle tissues from 117 Korean patients with suspected Mendelian NMDs. We called 38.1% […]