Publications by authors named "M Cossee"
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
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- High-throughput sequencing has revealed "actionable genes" that are associated with diseases having specific treatments or care.
- Accurate genetic diagnosis is essential in starting interventions that can prevent or delay rare diseases, but increased analysis requests can delay results.
- A French study identified 63 actionable genes in myopathies, highlighting the potential for improved patient prognosis, yet many rare diseases still lack specific treatments, emphasizing the need for ongoing research.
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- A case study describes a pregnant woman who underwent chorionic villus sampling due to a high risk associated with fetal nuchal translucency.
- An intragenic deletion affecting the Duchenne muscular dystrophy (DMD) gene was detected in a male fetus, but was found only in a small percentage (23-30%) of placental cells.
- The report highlights the need for amniocentesis after identifying mosaicism in the placenta to confirm that any genetic changes are not affecting the fetus, as this instance represents only the second documented case of confined placental mosaicism involving a DMD deletion.
Store-operated calcium entry (SOCE) plays a crucial role in maintaining cellular calcium homeostasis. This mechanism involves proteins, such as stromal interaction molecule 1 (STIM1) and ORAI1. Mutations in the genes encoding these proteins, especially STIM1, can lead to various diseases, including CRAC channelopathies associated with severe combined immunodeficiency.
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- X-linked retinitis pigmentosa (XLRP) causes progressive vision loss primarily in males, with carrier females exhibiting a range of severities; about 70% of cases are linked to mutations in the RPGR gene.
- The terminal exon ORF15 of the RPGR gene is challenging to sequence due to its repetitive nature, complicating molecular diagnostics.
- A recent study validates a long-read sequencing method that improved detection rates of ORF15 variations to nearly 100% after additional visual inspection, suggesting this approach should be the first screening choice for XLRP cases.