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 observed […]
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Biallelic frameshift variants in PHLDB1 cause mild type Osteogenesis Imperfecta with regressive spondylometaphyseal changes
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
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
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
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 […]
FXN gene methylation determines carrier status in Friedreich ataxia
Friedreich ataxia is a genetic condition that is characterized by progressive incoordination and unsteadiness that leads to loss of independent mobility, and premature mortality due to heart disease. It is transmitted by unaffected parents who are “carriers” for the genetic defect that causes Friedreich ataxia, which the child inherits from both parents. Genetic testing of […]
Clinical and genetic features of GATOR1 complex-associated epilepsy
We evaluated the mutant prevalence of GATOR1-complex encoded by DEPDC5, NPRL2 and NPRL3 genes, a modulator in mammalian target of rapamycin (mTOR) pathway, in Chinese epilepsy cohort and further defined the phenotype variation. we find that patients carrying DEPDC5-loss-of-function variants may have a high prevalence of focal seizures with a dynamic phenotype highlighting reduced penetrance […]
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices
A genetic test can identify genetic change(s) not related to the initial reason for doing the test. Internationally, there are differences in how these findings are managed. Survey responses from Australian testing laboratories found that they used several different terms to describe the findings, and had different reasons guiding their decision of whether to report them. […]
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
NF2-related-schwannomatosis is characterised by the development of benign tumours of nerve sheaths (schwannomas) and lining of the brain (meningiomas). Around 50—60% of affected people are the first in their family and half of these have genetic faults that change an amino acid to an instruction to stop making protein (nonsense). Although there are 60 positions […]
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA
As important pathogenic factors of male infertility, severe multiple morphological abnormalities of the sperm flagella (MMAF) and nonobstructive azoospermia (NOA) are mostly considered to be of genetic origin. Here, we identified biallelic deleterious variants of CFAP54 from three unrelated men with severe MMAF or NOA. CFAP54 deficiency could cause various morphological and ultrastructural abnormalities in […]