N Engl J Med 2006;354:1387-401. Copyright © 2006 Massachusetts Medical Society. The inherited forms of proteinuria comprise a heterogeneous group of rare renal diseases in which glomerular dysfunction and proteinuria are prominent. Despite the rarity of hereditary proteinuria syndromes, genetic, biochemical, and structural studies of these diseases have made important contributions to our knowl...

Hereditary cancer syndromes are frequently seen in young cancer patients and patients with a positive family history. Genetic testing is important for the identification of high-risk individuals, and for the early introduction of specialized preventive care or prophylactic surgeries. High-risk tumour suppressor genes (BRCA1 and BRCA2) and DNA repair genes (MLH1, MSH2 and MSH6) are responsible f...

Genomic studies in the recent decades lead to the identification of new genetic mutations that have been shown to play detrimental roles in the formation of pheochromocytoma or paraganglioma. The majority of these genetic mutations detected affect two major cellular pathways - pseudo hypoxic pathway and kinase signalling pathway. Genetic mutations also resulted in syndromes related to paragangl...

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UNLABELLED 1 over 700 newborns every year is born with cleft lip with/or without palate, in 30% of cases there is a certain genetic mechanism underlying development of disease: chromosomal anomalies, monogenic diseases, exposure to teratogens or in utero disruptive mechanisms. The objective of our study is to describe the most common genetic syndromes and associated anomalies in patients with C...

Over 1,900 colorectal tumors will arise in association with a hereditary colorectal cancer syndrome in Spain in 2009. The genetic defects responsible for the most common syndromes have been discovered in recent years. Genetic testing helps diagnose affected individuals and allows identification of individuals at-risk. Colonoscopy and prophylactic colectomy decrease colorectal cancer incidence a...

The clinical diversity of syndromes caused by Staphylococcus aureus arises from a complex interplay between host and pathogen. Genetic variation can result in increased susceptibility to infection within the host and an increased capacity for virulence within the pathogen, resulting in a wide array of clinical syndromes. This review presents evidence for the role of bacterial and human genetic ...

We report a family with dominantly inherited migraine headaches, episodic vertigo, and essential tremor. All symptoms improved with the use of acetazolamide. Linkage analysis ruled out linkage to markers on chromosome 19p, known to be linked to the genetic defect in families with the clinically similar syndromes of hemiplegic migraine and periodic ataxia. This genetic heterogeneity of migraine ...

Severe congenital neutropenia includes a variety of hematological disorders characterized by severe neutropenia with absolute neutrophil counts (ANCs) below 500/ml and associated with severe systemic bacterial infections from early infancy. The genetic basis of many of the inherited forms of congenital neutropenia have been documented. Genetic alterations have also been identified in multifacet...

Symptoms involving the central nervous system (CNS) are frequently part of the variable clinical picture of genetic-dysmorphic syndromes. Intellectual disability represent the most common associated finding, but epilepsy is very frequently reported, for example in chromosomal abnormalities [1-3]. Seizure risk has been pointed out to be significantly higher in those with chromosomal abnormalitie...