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 ...
Authors’ response to the commentary by Kivela et al on Hany et al …
The commentary by Kivelä et al 1 corrects an important point of accuracy in supplementary table S3.2 It is also very welcome that authors with expertise in eye health and disease are highlighting the need for collaborative thinking and working across traditional clinical …
Homepage | Journal of Medical Genetics
1 day 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 ...
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, …
Christianson syndrome across the lifespan: genetic mutations and ...
Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in CS into adulthood. Method Data were collected as part of the International Christianson Syndrome and NHE6 ( SLC9A6 ) Gene Network Study. 44 individuals with 31 unique NHE6 mutations, age 2–32 ...
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 ...
Novel HYLS1 variants associated with Joubert syndrome suggest …
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 ...
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 ...