We describe an interesting case of a 23 year old female with known primary ovarian failure, who was diagnosed with abdominal adenocarcinoma of gastrointestinal origin. She experienced severe and prolonged chemotherapy side effects, and was eventually diagnosed with Fanconi anaemia due to biallelic BRCA2 variants. We highlights hurdles that were encountered during diagnosis, including initial […]
Latest articles
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Joubert syndrome (JS) is a genetic neurodevelopmental condition diagnosed by characteristic brain imaging findings in patients with abnormal eye movements, ataxia, and cognitive impairment. Until recently, all JS patients have been consistent with autosomal or X-linked recessive inheritance of variants in one of >40 ciliary genes. This study and other recent work demonstrate that dominant […]
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
GGC repeats in the NOTCH2NLC has been identified in patients with a group of neurodegenerative disorders. We review the NOTCH2NLC-related disorders and potential disease-causing mechanisms. We found that visual abnormalities may be NOTCH2NLC-specific, and the actual prevalence of the expansion in European patients may be potentially higher than reported. Repeat size and interruptions confer pleiotropic […]
SOX10: twenty years of phenotypic plurality and current understanding of its developmental function
SOX10 is a transcription factor involved in development of the neural crest and of a few non-neural crest derivatives. It has been involved in human disease (Waardenburg-Hirschsprung disease; type 4 Waardenbur syndrome) in 1998. Since then, the phenotypic spectrum has been broadened several times and now goes from mild to life-threatening phenotype. In this review, […]
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC) is due to TSC1/TSC2 mutations, leading to the development of tumors in multiple organs. Here, we describe an individual with minimal TSC clinical features for whom we identified four different inactivating TSC2 mutations, including two unique mutations in each of angiomyolipoma and angiofibroma tumors; these mutations were not present at all in other analyzed tissues. This suggests […]
Biallelic variants in ZFP36L2 cause female infertility characterized by recurrent preimplantation embryo arrest
Recurrent preimplantation embryo developmental arrest (RPEA) is the most common cause of assisted reproductive technology failure though the causes remain unknown. This study emphasizes the relevance of the association between maternal mRNA decay and human preimplantation embryo development. A novel potential gene ZFP36L2 was identified as a factor associated with female infertility characterized as RPEA. […]
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing
Pancreatic cancer is a deadly disease. Some patients develop pancreatic cancer because of an inherited change in their DNA (called a mutation). Patients with an inherited mutation may benefit from personalized medicine and their relatives may benefit from cancer screening and prevention strategies. However, there are long wait times for patients to be seen by […]
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium
Genetic discrimination is an ongoing issue in Australia, and is a matter of clinical, educational, political and consumer concern. In 2019, the Australian life insurance industry introduced a partial moratorium (ban) limiting the use of genetic test results in life insurance underwriting. The moratorium is industry self-regulated and applies only to policies below certain financial […]
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality
Pulmonary arterial hypertension (PAH) is a rare disease in which high blood pressure in vessels of the lung leads to heart failure and premature death. PAH is caused by various genetic and environmental factors, including recently identified autosomal dominant ATP13A3 variants causing adult-onset PAH. We report three families with a novel, autosomal recessive form of […]
Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review
In this manuscript, we describe two individuals with a very rare form of osteogenesis imperfecta (OI, also known as brittle bone disease) caused due to faults within SPARC gene. There are only a handful of patients described in the literature with this OI type and all these patients have significant fractures, curvature of spine and […]