Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study

This study aimed to assess the clinical significance of expanded carrier screening in the context of prenatal care by analyzing a substantial cohort. The research employed a comprehensive screening panel comprising 302 genes and utilized next-generation sequencing. The subjects were drawn from obstetric clinics, infertility centers, and medical facilities, and they received genetic counseling both […]

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Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi syndrome (CHS) is a rare genetic disorder that can cause pigmentary changes in skin, hair and eyes, easy bruising, weaker immune responses, and neurological issues secondary to abnormalities in lysosomal-related organelles. CHS arises due to variants in the LYST gene. Discerning these variants is challenging because LYST is large and its exact role is […]

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Exploring the Link Between Congenital Vertebral Malformations and Neural Tube Defects

Congenital vertebral malformations (CVMs) and neural tube defects (NTDs) are common birth defects affecting the spine and nervous system due to early embryonic development issues. Our review delves into their shared embryonic origins, signaling pathways, and clinical characteristics, highlighting a significant overlap. The co-occurrence of CVMs and NTDs underscores the importance of comprehensive clinical assessments. […]

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Carriers of autosomal recessive conditions: are they really ‘unaffected?’

It is currently accepted that certain genetic diseases require the inheritance of two “disease-causing” genetic variants to result in symptoms of a disease. However, some early studies suggest that the inheritance of only one of these “disease-causing” variants may result in less severe disease symptoms. People who have only one “disease-causing” variant are called carriers.  […]

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Recessive MECR pathogenic variants cause a LHON-like optic neuropathy

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by subacute visual loss, typically linked to genetic defects affecting respiratory complex I genes. Here, we expand the genetic landscape of LHON by describing the first autosomal recessive case with pathogenic variants in the MECR gene. The MECR enzyme belongs to the mitochondrial fatty acid synthesis (mtFAS) […]

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Association Between Genetic Polymorphisms and Risk of Adolescent Idiopathic Scoliosis in Case-Control Studies: A Systematic Review

Adolescent idiopathic scoliosis (AIS) is a lateral curvature of the spine that affects 2-3% of children and is known to have a strong genetic component. Decades of studies have revealed dozens of genetic variants that may contribute to disease risk, but these studies vary greatly in methodology, cohort demographics, and sample sizes. To critically assess […]

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HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element

SMN2 exon 7 skipping is associated with spinal muscular atrophy and has been a major therapeutic target. However, the mechanism regulating exon 7 splicing remains largely unknown. This study uncovered that hnRNPR potently inhibits exon 7 inclusion through binding to an AU-rich element of the exon. Both hnRNPR and Sam68 bind to the element in […]

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Adaptive Nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication

The diagnosis of hereditary breast and ovarian cancer is based on the detection of germline alterations in BRCA1 among other genes. However, structural variants can be difficult to assess with standard molecular techniques. In the recent years, Oxford Nanopore long-read sequencing has proved its relevance to accurately and rapidly provide genetic diagnoses of these types […]

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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Limb-girdle muscular dystrophies (LGMD) are muscle disorders with a genetic cause. TRAPCC11 is one of the many genes involved in LGMD, which leads to muscle weakness from early childhood, intellectual disability and elevated muscle enzymes in blood test, among other symptoms. In this study, we report 25 Roma individuals who share the same homozygous variant […]

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Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation

Retinitis pigmentosa (RP) is the most common hereditary retinal dystrophy. This study identified variant c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter) in VWA8 which is linked to retinal diseases from a four generation Chinese family with autosomal dominant retinitis pigmentosa. Then this study showed that the VWA8 variant can induce mitochondrial defects, resulting in the activation of mitophagy and […]

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