Osteoporosis is the fourth most prevalent chronic illness with a huge burden of pain, disability and loss of independence in those affected in populations in the EU plus 2 and throughout the world. Familial forms of Osteoporosis not only contribute to the population frequency of painful disabling osteoporosis, but discoveries made from research into the […]
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De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy
The majority of focal epilepsy with unknown causes has genetic predisposition. This study demonstrates that de novo missense variants in ATP11A are associated with refractory focal epilepsy. Further systematic analysis indicates that variants located in transmembrane regions (TMs) are related to severe and multiple neurological symptoms, whereas non-TM variants are associated with mild and single […]
Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry
Hypophosphatasia (HPP) is a rare disease caused by changes in the ALPL gene – these changes are also known as “variants”. This study analyzed 685 patients from the Global HPP Registry to compare disease burden in patients with 1 variant versus those with 2 or more variants in the ALPL gene. No differences were reported […]
A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review
This study reports the first case of Huntington disease-like 1 (HDL-1) in a Chinese family, a rare genetic disorder caused by a mutation in the PRNP gene. The family presented symptoms resembling Huntington’s disease, including involuntary movements, cognitive decline, and mood changes, but genetic testing confirmed a unique 8-repeat insertion in PRNP. Notably, the patient’s […]
Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese
A new study from Singapore identified a novel genetic variant in people of Southern Chinese heritage that causes a type of inherited vision loss termed retinitis pigmentosa (RP). This form of RP affects families across multiple generations. The change was found in numerous unrelated families but arose from a common ancestor. Because most Chinese people […]
Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy
Genetic causes of paediatric-onset hypertrophic cardiomyopathy (HCM) may be more diverse than in adults. To explore current practices and resource availability for genetic testing in paediatric HCM, we surveyed centres in the International Paediatric Hypertrophic Cardiomyopathy Consortium (IPHCC). Important findings show broad access to genetic testing among expert centres following recent guideline changes, but highlight […]
Identification of MACF1 as a causative gene of generalised epilepsy
Generalised epilepsies are believed to be genetically determined, but the genetic causes for most patients remain unknown. The present study identified MACF1 variants in 10 patients with generalised epilepsy from the China Epilepsy Gene 1.0 Project. The gene-disease association was supported by an excess of variants, genotype-phenotype correlation, and data from spatial-temporal expression and single-cell […]
Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis
Scoliosis is the most common pediatric spinal deformity. Adolescent idiopathic scoliosis (AIS) comprises more than 80% of scoliosis and is influenced by genetic factors. Exome sequencing from 1,221 individuals with severe AIS (spinal curvatures ≥ 35 degrees) revealed aggregation of rare variants in several genes, including RAF1 (Noonan Syndrome), FBN1 (Marfan syndrome), and FNDC1 (previously […]
Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes
DYNC2H1-related Short Rib Thoracic Dysplasia (SRTD) is a rare genetic, bone dysplasia characterised by narrow chest, short ribs, short long bones and extra fingers (polydactyly). Currently, there is limited information regarding correlations between the genetic fault, antenatal scan findings, and clinical presentation e.g., respiratory distress and prognosis. Our multi-centre study investigated nine patients with confirmed […]
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
Genome sequencing identifies the genetic origin of autism in ~20% individuals having a diagnosis. Knowing the genetic factors involved can end long diagnostic ‘odysseys’ seeking causation and as well help doctors tailor care and test for other health conditions. Some families choose not to pursue testing, possibly due to a lack of real-life examples of […]