Clinicians are often asked to document a patient’s ethnicity when requesting certain types of medical investigations. For example, the genomic medicine service in England wants this information to help guide the interpretation of certain genetic findings. In the US, a patient’s race might be similarly documented. However, the terms ethnicity, or race, or indeed ancestry, […]
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Clinical and genetic spectrum of RNF216-related disorder: A new case and literature review
RNF216-related disorder is a rare neuroendocrine disease resulting from RNF216 gene mutations with diverse symptoms and inheritance pattern. This study reported a new case with a novel causative RNF216 variant and reviewed all individuals with causative RNF216 variants in previous reports. We found that ataxia was the most frequent initial symptoms in individuals under 30 […]
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Mutations in the COL17A1 gene are known to cause the recessively inherited skin blistering disease junctional epidermolysis bullosa in some patients and a dominant corneal ulcerative disease in others. There are also hints in the literature of a link to tooth defects, but these have not been fully documented. Here we show that COL17A1 mutations […]
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries
The von Hippel Lindau (VHL) disease is an a hereditary tumor syndrome that predisposes to retinal and central nervous system hemangioblastomas, pheochromocytomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors and other tumors. The VHL disease is caused by germline VHL mutation that require accurate classification. The TENGEN and PREDIR networks has collected and interpreted the data […]
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomized phase 3 BALANCE study
BALANCE is the first study directly comparing pegunigalsidase alfa with agalsidase beta for the treatment of patients with Fabry Disease (FD). At enrollment, participants had received previous agalsidase beta treatment for 6 years on average and had worsening kidney function. The participants were then randomly assigned to receive pegunigalsidase alfa or continue agalsidase beta. Results […]
Titin copy number variations associated with dominant inherited phenotypes
Titinopathies, are complex neuromuscular disorders resulting from TTN gene mutations with diverse symptoms and inheritance modes. This study focused on eight families with dominant titinopathies. We employed next genetation sequencing on DNA and RNA to identify and characterize TTN gene copy number variations (CNVs). These analyses in patients’ muscles revealed seven deletions CNVs. The prevalent […]
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy
Oculopharyngodistal myopathy (OPDM) is a rare neuromuscular disease characterized by progressive ptosis, ophthalmoparesis, facial/bulbar and distal weakness. CGG repeat expansions in the 5’ untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1 have been reported to cause OPDM. In this study, we identified CGG repeat expansion in the long non-coding RNA of LOC642361/NUTM2B-AS1 in 2 unrelated […]
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Ehlers-Danlos syndromes (EDS) are heritable connective tissue disorders associated with joint hypermobility, skin extensibility and tissue fragility. We report the results of whole exome sequencing and genetic burden analysis for 174 patients with complex EDS, recruited from two UK specialist clinics, who remained without a molecular diagnosis despite previous genetic testing. Ten patients were found […]
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 […]
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 […]