3 days ago · Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic ...

We begin 2025 by looking back at the contribution of Charis Eng, a distinguished cancer geneticist and former North American editor of the Journal of Medical Genetics ( JMG ). In this issue, readers will find an obituary written by former coeditors and colleagues.1 In addition, the second invited commentary in our Six at Sixty series2 focuses on a paper coauthored by Charis Eng and published ...

Background Primary lymphoedema (PL) syndromes are increasingly recognised as presentations of complex genetic disease, with at least 20 identified causative genes. Recognition of clinical patterns is key to diagnosis, research and therapeutics. The defining criteria for one such clinical syndrome, ‘WILD syndrome’ ( W arts, I mmunodeficiency, L ymphoedema and anogenital D ysplasia), have ...

Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem malformation known as the ‘molar tooth sign’. Recessive pathogenic variants in the HYLS1 gene are associated with hydrolethalus syndrome (HLS), a severe disorder characterised by multiple developmental defects ...

Background Pathogenic variants in the DMD gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted DMD gene, gene panels, exomes and genome sequencing have advanced genetic diagnostics, yet some cases remain elusive. Methods We performed total RNA sequencing (RNAseq) on muscle biopsy from 13 male patients with a clinical diagnosis of DMD/BMD.

AKT1 -related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023. Affected individuals were selected based on existing Proteus ...

Inbreeding has been shown in almost all species to be associated with impairment of function because of homozygosity of recessive alleles. This occurs across a wide range of traits and suggests a large number of deleterious alleles in the human genome. This has been predicted from the reduced early survival of offspring in first cousin marriages and from similar results in other organisms.1 ...

Isolated congenital anosmia (MIM 107200) is a very rare condition characterised by a complete smelling defect that is present from birth in otherwise normal subjects. To our knowledge, nine sporadic cases of isolated congenital anosmia have been known,1,2 and patients reported by Lygonis3 and those by us4 were only familial isolated congenital anosmia. Other cases of …

Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. In the UK in 2020, 52% of all cancers were diagnosed at stage I or II. The National Health Service (NHS) long-term plan is to increase this to 75% by 2028, …

Background AUTS2 syndrome is an ‘intellectual disability (ID) syndrome’ caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2 . So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. Methods We present a detailed clinical description of 13 patients (including six ...