Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

Article Abstract:

The identification of mutations in FGD4 encoding FGD4/FGD1-related F-actin binding protein (FRABIN) in two families with members affected with Charcot-Marie-Tooth type 4H (CMT4H) disorder is reported. The results have concluded that FRABIN is the sixth protein related to guanosine triphosphate binding proteins (GTPase) signaling but the first Rho GDP/GTP nucleotide exchange factor (GEF) to be identified in CMT disease.

United States, DNA binding proteins, Charcot-Marie-Tooth disease

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Article Abstract:

A common interstitial microdeletion of 200 kb on chromosome 1q21.1 in investigated 30 patients with TAR syndrome is described which is detected by microarray-based comparative genomic hybridization. Analysis of the patients reveals that deletion occurred de novo in 25% of affected individuals and this microdeletion is the prerequisite for the phenotype.

Europe, Heredity, Human, Human heredity, TAR syndrome

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A defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2)is associated with autosomal recessive mental retardation

Article Abstract:

A report on complex mutation in the ionotropic glutamate receptor 6 gene (GRIK2) with a moderate-to-serve nonsyndromic autosomal recessive mental retardation is presented.

Mental retardation, Clinical report

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