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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
The data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype, and it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.
Disruption of neurexin 1 associated with autism spectrum disorder.
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.
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,
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
The identification of a new MRX gene, ARHGEF6 (also known as αPIX or Cool-2), encoding a protein with homology to guanine nucleotide exchange factors for Rho GTPases (Rho GEF).
A restricted spectrum of NRAS mutations causes Noonan syndrome
Evidence is provided for an obligate dependency on proper NRAS function in human development and growth and for germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation in some cases of Noonan syndrome.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
A previously unreported X-linked brain malformation syndrome caused by mutations of CASK is described, with all five affected individuals with CASK mutations having congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
It is demonstrated that KCNH1 mutations cause ZLS and genetic heterogeneity for this disorder is documented, and structural analysis predicts a perturbing effect of the mutation on complex assembly.
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
The phenotypic spectrum associated withKRAS missense mutations was defined and the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 orMEK1 alteration, respectively were provided.
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically.