Pathological myopia (PM) is one of the major causes of irreversible blindness worldwide. However, its exact genetic and pathogenic mechanism remains unclear. This study identifies a novel gene, PSMD3 (proteasome 26S Subunit, Non-ATPase3), with a missense mutation in a PM family. Mutation of PSMD3 decreases the mRNA and protein expression, causing apoptosis of human retinal […]
Latest articles
MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1 (Contributed by Dr Niki Flaum)
The genetic cause in women diagnosed with ovarian cancer (OC) under thirty years of age is unclear. It is known that the histology and genetics of these cancers are different to those in the general OC patient population. On reviewing the genes affected in women diagnosed under thirty years in the North-West of England we […]
Update of penetrance estimates in Birt-Hogg-Dubé syndrome (Contributed by Dr Fiona Jane Bruinsma)
Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder associated with lung cysts, collapsed lungs, skin lesions, and an increased risk of both benign and malignant renal tumours. In addition to the accepted phenotypic presentation of BHD, it has been suggested that colonic polyps may also be associated with BHD syndrome. This analysis provides more precise […]
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) (Contributed by Drs. Hilary Vallance and Melissa Carter)
Neurodevelopmental disorders (NDDs) such as global developmental delay, intellectual disability and autism spectrum disorder are collectively the most common chronic medical conditions encountered in pediatric primary care. Given their clinical and etiological heterogeneity, the cause of NDDs can be challenging to diagnose. Guideline recommendations for appropriate metabolic and genomic investigations are inconsistent and has resulted […]
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 (Contributed by Dr Agustín Ibáñez)
This study examined three separate Latin American families with frontotemporal dementia (FTD) and found that they all had the same genetic variation (p.H157Y) in the TREM2 gene. Compared to both sporadic FTD cases and healthy controls, the three patients displayed early behavioral changes, worse cognitive impairments, and more severe brain atrophy, particularly in areas where […]
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations (Contributed by Dr. Ming-yi Chung)
RDH12 is an enzyme for recycling visual pigment in the photoreceptor cells. Mutations in RDH12 are known for causing severe childhood-onset visual impairment or diffuse retinal degeneration. This article described a new phenotype, an autosomal recessive pseudocoloboma-like maculopathy, resulting from RDH12 mutations. Although RDH12 is primarily expressed in the photoreceptor cells, relatively normal to subnormal photoreceptor functions are […]
Biallelic frameshift variants in PHLDB1 cause mild type Osteogenesis Imperfecta with regressive spondylometaphyseal changes (Contributed by Prof. Beyhan Tüysüz)
Osteogenesis imperfecta (OI) is a group of disorders, mostly autosomal dominant, inherited characterized by susceptibility to fractures, resulting from a type 1 collagen defect. Although many autosomal recessive genes have been shown to cause OI in recent years, there are still patients whose molecular defect is still unknown. In this study, we described recurrent fractures, […]
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (Contributed by Alba Segarra Casas)
Duchenne and Becker muscular dystrophy (DMD/BMD), caused by mutations in the DMD gene, are characterized by the presence of progressive muscle weakness. DMD is the most severe form of the disease, leading to significant disability, and is the most common neuromuscular disorder in childhood. For these patients, it is essential to obtain a precise genetic […]
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences (Contributed by Dr. Weimin Bi)
Mosaicism (a mixture of normal cells and cells with an abnormal chromosome) is rarely seen in multiple family members. We studied a family spanning three generations that had an abnormal chromosome 8 with a small piece of chromosome 21 attached to its end (der(8)). Multiple family members also had cells with normal chromosomes resulting in […]
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes (Contributed by Prof. Derralynn Hughes)
Fabry disease is a rare inherited condition that can lead to serious renal, cardiac and cerebrovascular events. Using pooled clinical trial data, we examined the efficacy of migalastat, an oral treatment, in a large group of patients. The rate of newly occurring Fabry-associated clinical events (FACES) with prolonged treatment was low, regardless of whether patients […]