Germline missense mutations affecting KRAS isoform B are associated with a severe noonan syndrome phenotype

Article Abstract:

Noonan syndrome (NS), a developmental disorder is characterized by short stature, facial dysmorphia, congenital heart disease, and multiple skeletal and hematology defects. The identification of heterozygous KRAS gene mutations in two subjects exhibiting a severe NS phenotype with features overlapping those of cardiofaciocutaneous and Costello syndromes is reported.

New York, Causes of, Risk factors, Congenital heart disease, Congenital heart defects, Transduction, Transduction (Genetics), Noonan syndrome

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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Article Abstract:

Comprehensive CEP290-mutation analysis is performed on nonoverlapping cohorts of Joubert syndrome-related disorder (JSRD)-affected patients with a proven molar tooth sign (MTS). The results have indicated that CEP290 mutations are frequently encountered and are largely specific to the JSRD-Senior-Loken syndrome (SLS) subtype.

United States, Clinical report, Joubert syndrome

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Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

Article Abstract:

A study providing the first extensive data set on HSA21 gene expression variation in Down syndrome is presented. Results underscore its role in modulating the outcome of gene- dosage imbalance.

Genetic aspects, Gene expression, Down syndrome, Genetic research

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