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Germline KRAS mutations cause Noonan syndrome
These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. Expand
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected. Expand
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
The study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available. Expand
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
The diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotypes, X‐inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation is analyzed. Expand
Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)
Two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2); therefore, unnecessary treatment attempts can be avoided. Expand
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
One patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development. Expand
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu1, Elia Di Schiavi2, Len A Pennacchio3,4, Avi Ma’ayan5, Anna Sarkozy6, Valentina Fodale1,7, Serena Cecchetti8, Alessio Cardinale9, Joel Martin4, Wendy Schackwitz4, Anna Lipzen4,Expand
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families were identified and each mutation was linked to early-onset SRNS with sensorineural deafness, suggesting that coen enzyme Q10-related forms of SRNS and hearing loss can be molecularly identified and potentially treated. Expand
Noonan syndrome and clinically related disorders.
An overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations are provided. Expand
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
The data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder and shows that it is highly underdiagnosed. Expand