Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe blistering skin disorder caused by a genetic mutation in the type VII collagen gene (COL7A1). The COL7A1 c.6527insC mutation is present worldwide and a Sephardic origin of this prevalent mutation has been suggested. In this study, RDEB individuals with the COL7A1 c.6527insC mutation from Spain, […]
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The Genetics Behind Nanophthalmos
Our study investigated the genetic causes of nanophthalmos, a rare condition where eyes are abnormally small, often leading to severe vision problems. We analyzed the genes of 105 Chinese patients, the largest group of this kind studied so far. Our research found genetic causes in over 70% of patients, primarily in four genes: PRSS56, MFRP, […]
GAPO syndrome: a comprehensive examination and review of 105 clinical cases
GAPO syndrome is a rare inherited condition that affects growth, hair, teeth, and vision. It is an autosomal recessive syndrome due to variants, of which both parents are healthy carriers, in ANTXR1 gene, encoding Anthrax Toxin Receptor 1. This gene is crucial for the creation of actin, protein important for regulating the shape and interactions […]
Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus
Tbx2 is a transcription factor critical to inner hair cell specification and maintenance during murine cochlear development. However, its pathogenic role in human genetic hearing loss remains uncharacterized. In this study, we identified two heterozygous TBX2 frameshift variants in two unrelated families with hearing loss associated with incomplete penetrance nystagmus, via a combination of linkage […]
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder
Despite years of research, no single gene has been clearly identified as the main cause of the cognitive features of the Williams-Beuren syndrome. This well-known neurodevelopmental disorder is characterized by a distinctive cognitive and behavioral profile. At the molecular level, it is caused by a small deletion of several genes on chromosome 7. One gene […]
Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy
Chronic pain affects millions, but opioid painkillers bring addiction, tolerance and fatal breathing risks. The voltage-gated sodium channel Nav1.7, encoded by SCN9A, is key in pain signaling. 2004 research linked its gain-of-function mutations to primary erythromelalgia, and 2006 work connected loss-of-function mutations to congenital insensitivity to pain, making it a therapeutic target. Though Nav1.7 inhibitor […]
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement
We identified disease-causing variants in the non-coding gene RNU4ATAC in patients with Joubert syndrome, a rare neurodevelopmental disorder. These individuals also presented features overlapping with skeletal disorders already associated to RNU4ATAC, such as short stature and other anomalies. Our findings confirm that RNU4ATAC variants can lead to a combined neurological and skeletal phenotype. Importantly, the […]
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Most genes linked to inherited diseases follow either a dominant or recessive pattern, but some genes can cause disease through both modes. This study investigated these unusual “dual-inheritance” genes. The researchers compiled a list of 562 such genes and identified key features that set them apart, and other features that were intermediate between the two […]
Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with Parkinsonism
Our study focuses on a rare genetic change in the GRIA3 gene, which plays a key role in excitatory brain pathways. This gene encodes a protein that is part of the AMPA receptor. We discovered a new variant in a child with severe developmental problems, epilepsy, and movement disorders. Interestingly, this mutation does not fit […]
Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia
Utility of genetic testing (GT) to guide cancer treatment, risk management and prevention, has driven the demand for cancer genetic services. We evaluate the outcomes of the first Genetic Counsellor (GC)-led service in Asia, as a potential model for mainstreaming. GC efforts were significant in addressing barriers, which led to improved uptake and increased carrier […]