In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndr...

Myelodysplastic syndrome (MDS), considered a pre-leukemic state, has recently been categorized as a subset of bone marrow failure syndromes. Unlike other subtypes of bone marrow failure syndromes, such as aplastic anemia or dyskeratosis congenita, little is known about genetic alterations of human telomerase in MDS, despite the fact that immune cells from patients with MDS frequently exhibit te...

Over the last 4 years, three genetic etiologies of hyper IgE syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE syndromes are characterized by eczema, sinopulmonary infections, and greatly elevated serum IgE. However, each has distinct clinical manifestations. Mutations in STAT3 cause autosomal dominant HIES (Job's syndrome), which is unique in its diversity of conne...

The increasing presence of genetic neurodevelopmental disorders (NDDs) results in greater demands for counseling. Many studies focus on the characteristics patients, but less family functioning. aim this study is to objectify parental stress and its relationship with child environmental factors across several syndromes. 56 individuals NDD participated: 24 Kleefstra Syndrome, 13 Koolen-de Vries ...

BACKGROUND Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart dis...

INTRODUCTION The SCAN cancer genetics workgroup aimed to develop Singapore Cancer Network (SCAN) clinical practice guidelines for referral for genetic evaluation of common hereditary cancer syndromes. MATERIALS AND METHODS The workgroup utilised a modified ADAPTE process to calibrate high quality international evidence-based clinical practice guidelines to our local setting. RESULTS To form...

The human mitochondrial genome is replicated by DNA polymerase γ in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS...

Copy number variants (CNVs) of 1q21.1 are increasingly being recognized due to the widespread use of genetic screening tests for the investigation of developmental disorders and epilepsy. These include microdeletion and microduplication syndromes, associated with a wide variety of pathology including autism spectrum disorders, attention-deficit disorder, learning disabilities, hypotonia, facial...

Frasier and Denys-Drash syndromes are both characterised by renal disease, intersex, and a predisposition to develop tumours. The association of mutations within the Wilms’s tumour suppressor gene (WT1) and the Denys-Drash syndrome is now well described. More recently, mutations of the WT1 gene have also been found to cause Frasier syndrome. The clinical and genetic overlap between these two sy...

About 6% of colorectal cancers are caused by genetic mutations associated with hereditary colorectal cancer syndromes. The most common hereditary cancer syndromes nurses are likely to encounter include hereditary nonpolyposis colon cancer or Lynch syndrome, familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH polyposis. Current colorectal cancer recommendations for...