Cri-du-Chat Syndrome (CdCS) is a rare genetic disorder caused by missing pieces (deletions) of chromosome 5. This study compared 3D facial photos of 29 individuals with CdCS and thousands of unaffected individuals to understand how different deletions affect facial features. Large deletions caused consistent features like a short space between the nose and upper lip, […]
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Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and/or ovarian cancer
The Manchester score-(MS) was developed-(2004) to assess the likelihood of BRCA1/2 pathogenic variants-(PV) in breast/ovarian cancer cases with MS=15/20 being the threshold for 10/20% detection rates. We have now evaluated MS in >10,000 breast/ovarian cancers. Overall, 6744 breast and 3291 ovarian cases were tested. For breast, 453-(6.7%) PVs were detected in BRCA1 and 456-(6.8%) in […]
Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
Myotonic dystrophy type 1 is a progressive hereditary disease mainly affecting muscles, eyes, brain, among other tissues, which impact patient´s daily lives. Although there is no cure for the disease, much progress is being done to find a treatment. For this, it is required to identify biomarkers, which are molecules or compounds that indicates something […]
Dental Agenesis as a Novel Phenotypic Feature Associated with Hereditary Diffuse Gastric Cancer in China
Hereditary diffuse gastric cancer (HDGC) is a rare hereditary disease of gastric cancer caused by germline variants in the CDH1 gene. In our study of 121 Chinese patients with gastric cancer, we identified three individuals carrying CDH1 mutations. Two of them also presented with congenital tooth agenesis, a feature rarely documented in HDGC, particularly in East Asian populations. This observation suggests […]
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation
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, […]
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 […]