Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

BACKGROUND Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS Mutation and fluorescence in situ hybridization analysis was performed on blood samples of 59 patie...

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

BACKGROUND Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene...

Genotype-phenotype correlation in long QT syndrome

Congenital long QT syndrome, caused by a cardiac channelopathy, is a leading cause of sudden cardiac death in the young population. In total, 16 genes have been implicated in this condition, with three genes being the most commonly affected. Long QT syndrome is one of the earliest conditions for which a genotype specific treatment was designed. This genotype-phenotype correlation extends to inv...

Genotype-Phenotype Correlation among patients with Dystrophinopathies

Objective: To correlate the site and size of dystrophin gene deletion with the clinical picture in patients with dystrophinopathies. Design: The dystrophin gene is one of the largest known genes. More than half of the dystrophinopathy cases are associated with intrageneic deletions. The importance of the study arises from the fact that dystrophin cDNA probes provide a direct method of genetic d...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation