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 […]
Latest articles
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 […]
Very early-onset symptomatic CNS hemangioblastoma in Von Hippel Lindau disease
Von Hippel-Lindau (VHL) disease is a rare genetic condition than can lead to the development of various tumors and cysts in the body, with brain and spinal hemangioblastomas (benign tumors caused by abnormal blood vessel growth) being the most common. Early diagnosis through genetic testing and regular check-ups is important to prevent serious complications, such […]
Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by a range of mostly benign tumours, including cutaneous neurofibromas. In many cases, the pathogenic variants in the NF1 gene arise de novo, meaning they are not inherited. In some instances, these variants are present only in a subset of cells, a condition known as genetic […]
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are overlapping disorders affecting muscle, bones, spleen, and platelets. TAM/STRMK is caused by missense mutations in STIM1 and ORAI1, encoding key effectors of calcium homeostasis. Here we describe the first in-frame deletion in STIM1. Functional experiments in the cell model demonstrated that the deletion of 8 amino […]