Publications by authors named "R TOURAINE"
Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
View Article and Find Full Text PDFObjective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2, have been shown to cause distal myopathy.
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- Anorectal malformations (ARMs) are congenital conditions affecting the anus and rectum, often associated with syndromic diseases, meaning they occur alongside other medical issues.
- A case study discusses a 4-year-old girl with an isolated ARM who later was diagnosed with Coffin-Siris syndrome (CSS) linked to an ARID1B gene mutation, highlighting the rarity of this dual diagnosis.
- Literature review revealed 10 other cases with both CSS and ARMs, suggesting a significant association between the two, particularly with ARID1A-related forms of CSS.
Article Synopsis
- - Distal myopathies are rare inherited disorders that cause muscle fiber loss starting in the extremities, linked to variants in a new gene previously associated solely with heart conditions, which encodes a key muscle protein.
- - The study aims to understand the mechanisms behind these disorders by testing various genetic variants in muscle cell models and correlating them with clinical data from affected patients.
- - Findings indicate that certain genetic changes linked to dominant forms of the disease cause toxic protein aggregates, suggesting these variants should be considered harmful, while also highlighting the need for further research into other potential disease mechanisms.
Multiple cystic lung diseases comprise a wide range of various diseases, some of them of genetic origin. Lymphangioleiomyomatosis (LAM) is a disease occurring almost exclusively in women, sporadically or in association with tuberous sclerosis complex (TSC). Patients with LAM present with lymphatic complications, renal angiomyolipomas and cystic lung disease responsible for spontaneous pneumothoraces and progressive respiratory insufficiency.
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