Polycystic ovary syndrome (PCOS), characterized by menstrual irregularity, hyperandrogenism and polycystic ovarian morphology, is the most common endocrinopathy in reproductive-aged women leading to anovulatory infertility. Its clinical manifestations and complications are well elaborated while the pathogenesis is obscure. In the current study, the authors took advantage of recently published genome-wide association study and proceeded replication […]
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Keratinocytic epidermal nevi are associated with mosaic RAS mutations
Keratinocyte epidermal nevi (KEN) are benign congenital skin lesions that result from postzygotic mutations in mosaicism. Activating oncogenic mutations in FGFR3 and PIK3CA have been reported in approximately 40% of KEN and are absent from normal skin. However, the cause of the remaining cases is not known. Hafner et al. report that postzygotic mutations in […]
Correlation of tumor BRAF mutations and MLH1 methylation with germline MMR gene mutation status: a literature review assessing utility of tumor features for MMR variant classification
Lynch Syndrome is a heritable disorder characterized by increased risk of colorectal, endometrial and other cancers. It is caused by mutations in the DNA mismatch repair (MMR) genes. We conducted a literature review of published studies that investigated MMR gene mutation status and two tumor characteristics commonly used to exclude individuals with colorectal cancer from […]
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Anderson Fabry disease is a progressive and debilitating lysosomal storage disorder resulting from a deficiency of a lysosomal enzyme and progressive accumulation of storage material. It affects both males and females and can result in significant pain, bowel symptoms, hearing loss, rash and reduced life expectancy from renal failure, heart disease and stroke. A treatment […]
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
Pancreatic adenocarcinoma (PC) is the deadliest among common cancers. Because PC progresses rapidly, identifying individuals with a high genetic risk of developing PC is critical to better define emerging strategies for the detection of early lesions. PC is familial in roughly 10% of patients. Germline mutations in CDKN2A, the major melanoma susceptibility gene, are detected […]
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ciliopathies are a group of disorders caused by primary cilium dysfunction and characterized by substantial genetic and phenotypic heterogeneity. Establishing genotype-phenotype correlations is critical for directing clinical genetic testing, informing medical management, and interpreting variants identified by genome-wide sequencing technologies. This study reports the spectrum of CC2D2A mutations in CC2D2A-related Joubert syndrome and identifies an […]
The phenotypic spectrum of the SMAD3-related Aneurysms-Osteoarthritis Syndrome (AOS)
Arterial aneurysms are associated with a high morbidity and mortality. Some arterial aneurysms are inherited and due to mutations in different genes in the TGFB signal transduction pathway. We recently identified a new genetic syndrome with arterial aneurysms associated with early-onset osteoarthritis (Aneurysms-Osteoarthritis Syndrome). This new syndrome is caused by mutations in the SMAD3 gene, […]
The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain
We all have the same genes; however, DNA mutations within genes, inherited from parents and transmitted to children, together with environmental factors, make us all different. Some mutations increase the risk of developing diseases with respect to general population. Recently, the mutation rs12975333 has been “associated with increased breast cancer risk” in the population of […]
Mutations in the Mitochondrial Complex I Assembly Factor NDUFAF1 Cause Fatal Infantile Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) describes abnormal thickening and dysfunction of heart muscle. It is a severe disorder and affected children frequently die of heart failure in infancy. Mitochondria are ‘batteries’ responsible for energy production inside most human cells. Mitochondrial disease can cause infantile-onset HCM by impairing energy production inside heart muscle cells. It is very difficult […]
Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification
Setleis syndrome, a type of focal facial derma dysplasia (FFDD), is a genetic abnormality involving fetal development of the face. Setleis syndrome may have several genetic causes, but two mutations in the TWIST2 gene have been identified previously. Patients are born with scar-like, “forcep” marks in their temporal regions along with other syndromic features. […]