PURPOSE Presently, 22 genes have been described in association with autosomal dominant retinitis pigmentosa (adRP); however, they explain only 50% of all cases, making genetic diagnosis of this disease difficult and costly. The aim of this study was to evaluate a specific genotyping microarray for its application to the molecular diagnosis of adRP in Spanish patients. METHODS We analyzed 139 ...

Twenty five symptomatic individuals and six asymptomatic obligate gene carriers from four families with autosomal dominant retinitis pigmentosa (adRP) showing apparent incomplete penetrance have been studied. Symptomatic individuals from three families showed early onset of night blindness, non-recordable rod electroretinograms, and marked elevation of both rod and cone thresholds in all subjec...

PURPOSE Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). METHODS It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relat...

PURPOSE This study presents an analysis of language skills in individuals with Noonan syndrome (NS), an autosomal dominant genetic disorder. We investigated whether the language impairments affecting some individuals arise from deficits specifically within the linguistic system or whether they are associated with cognitive, perceptual, and motor factors. Comparisons of language abilities among ...

Autosomal dominant retinitis pigmentosa (ADRP) has been linked to mutations in the gene encoding rhodopsin. Most RP-linked rhodopsin mutants are unable to fold correctly in the endoplasmic reticulum, are degraded by the ubiquitin proteasome system, and are highly prone to forming detergent-insoluble high molecular weight aggregates. Here we have reported that coexpression of folding-deficient, ...

Asthma, a common disorder that affects >250 million people worldwide, is defined by exaggerated bronchoconstriction to inflammatory mediators including acetylcholine (ACh), bradykinin and histamine-also termed airway hyper-responsiveness. Nearly 10% of people with asthma have severe, treatment-resistant disease, which is frequently associated with immunoglobulin-E sensitization to ubiquitous fu...

b ac k gro und : atopic dermatitis (ad) is a prevalent chronic disease in children aging from 6 months to 12 years old. recent studies have shown a positive effect of prebiotics in the prevention and treatment of ad. the mechanism of this effect has not been clearly established. the objective of this study was to investigate the effect of supplementation of prebiotic on serum immunoglobulin e (...

To the Editor : Hyper-immunoglobulin M (IgM) syndromes are characterized by the presence of recurrent infections, low levels of IgG and IgA, and normal to high levels of IgM. The X-linked hyper-IgM (X-HIGM) syndrome is the most frequently observed subtype of hyperIgM syndromes (65–70%) and results from defects in the CD40L gene, which encodes for the CD40 ligand (CD154) (1–3). In this study, a ...

The authors describe the case of a 28-year-old woman, with a history of recurrent bacterial infections since childhood and multiple hospitalizations for pneumonia, with important pulmonary sequelae, including bronchiectasis which warranted the need to perform a left lobectomy and lingulectomia at age 13. After diagnostic work up, the diagnosis of hypogammaglobulinemia with hyper-IgM was establi...