Six at Sixty. Commentary on identification of the
In 2005, the genetic aetiology of autism was considered elusive. Occasionally individuals with overgrowth disorders and hamartomas including Bannayan-Riley-Ruvalcaba and Proteus or Proteus-like and/or cancer such as Cowden syndrome, an autosomal dominant disorder with a high risk of breast, thyroid and endometrial cancer, were noted to have neuro-behavioural features resembling autism ...
Homepage | Journal of Medical Genetics
Jan 21, 2025 · 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 ...
JMG in 2025 | Journal of Medical Genetics
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 ...
Clinical and mutational signatures of CRB1-associated …
Results The mean age of CRB1 cohort was 27.33±14.63 years. Results showed that yellowish geographic macular degeneration (66.67%), small white or yellow dots (65.6%), hyperopia (62.5%), abnormally laminated retina (61.61%), epiretinal membrane (60.6%) and nummular pigment deposits (50%) were the most common signatures in patients with CRB1 mutations. . These clinical signatures were notably ...
Authors - Journal of Medical Genetics
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 …
About - Journal of Medical Genetics
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.
Genetics of prostate cancer: a review of latest evidence
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, …
Inbreeding and risk of late onset complex disease
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 ...
ZFHX3 variants cause childhood partial epilepsy and infantile …
Background The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and neuronal death. This study aims to explore the relationship between ZFHX3 variants and epilepsy. Methods Whole-exome sequencing was performed in a cohort of 378 patients with partial (focal) epilepsy. A Drosophila Zfh2 knockdown model was used to validate the association ...
Overview of VACTERL association - Journal of Medical Genetics
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L ...