Mutations in gene encoding filamin B Filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton. These proteins serve as scaffolds on which intracellular signaling and protein trafficking are organized. Filamin B has been found to be expressed in human growth plate chondrocytes, which are especially important in vertebrae segmentation and skeleton morphogenesis. Genetic analysis of patients with<unk>  has found the syndrome is caused by missense mutations in the gene that codes for filamin B. These mutations cause an accelerated rate of apoptosis in the epiphyseal growth plates of individuals with the mutation. The defects can cause short stature and other symptoms associated with<unk> . Localization Genetic analysis has found that a gene linked to<unk> , LAR1, is strongly linked to chromosome 3p markers. The locus of this gene is found in a region defined distally by D3S1581 and proximally by D3S1600. This location can be mapped to chromosome region 3p21.1-14.1. Human type VII collagen gene is found within this region in chromosome region 3p21.1. It is reasonable to believe that the joint abnormalities and cardiac anomalies associated with<unk>  are related to the fact that the human type VII collagen gene is found within the same chromosome region as the LAR1 gene.
Larsen syndrome
Jeavons syndrome
Bowen–Conradi syndrome
Burnside–Butler syndrome
McGillivray syndrome
Peters-plus syndrome
Bogart–Bacall syndrome
Juberg-Hayward syndrome