Hereditary genetic testing can play a vital role in identifying cancer risks and informing care for individuals with prostate cancer and their families. This study evaluated the impact of integrating a dedicated genetic counselor into a multidisciplinary prostate cancer clinic. Following this change, referrals for genetic counseling and completion of genetic testing rose significantly. More […]
Latest articles
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss (Contributed by Dr Xuewen Wu)
DFNA20/26-related hearing loss shows considerable variability in both severity and age of onset. In this study, the authors discovered a new ACTG1 variant (p.Ile327Met) of DFNA20/26 and found that its location in a protein-binding region of the γ-actin molecule leads to earlier and more severe hearing loss. These findings provide insight into how mutation sites […]
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025 (Contributed by Professor David Sillence)
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 […]
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy (Contributed by Dr. Zi-Long Ye)
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 (Contributed by Dr. Priya S Kishnani)
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 (Contributed by Dr. Jie Ni)
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 (Contributed by Dr. Beau J Fenner)
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 (Contributed by Dr. Christoph Sandmann)
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 (Contributed by Xiao-Yun Lei)
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 (Contributed by Dr Christina A Gurnett)
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 […]