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, […]
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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 […]
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
We describe the first patient with a homozygous disease-causing missense variant in GINS2, a gene that encodes for a component of the DNA replication machinery. Our patient presented with craniosynostosis and fulfilled the clinical diagnosis of Meier-Gorlin syndrome (MGORS), including prenatal and postnatal growth delay, hypoplastic patellar, and typical craniofacial dysmorphisms, such as microtia. The […]
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
We report the first inherited ARF1variant in a girl with intellectual disability and periventricular nodular heterotopia, and in her father with previously undiagnosed single nodular heterotopia and mild clinical expression. Additionally, our patients presente some features suggestive for hypohidrotic ectodermal dysplasia. The clinical features of our patients showed similarities to those of three previously reported […]
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
Oligoasthenoteratozoospermia characterized by multiple morphological abnormalities of the flagella (MMAF) has been a major reproductive disorder with a highly genetically heterogeneous. Novel MMAF-associated genes remain to be identified in genetically unexplained MMAF cases. In this study, we identified homozygous deleterious CCDC34 variants that induce MMAF-associated oligoasthenoteratozoospermia in humans and mice. Also, treatment prognosis of intracytoplasmic […]