Thus, destruction of pancreatic beta cells, which results in insulin-dependent diabetes mellitus (IDDM), and impairment of GABA-ergic synaptic transmission in Stiff-Man syndrome (SMS) are both characterized by circulating autoantibodies to GAD65.
Moreover two YACs contain both STS deleted in SMS (U3) and STS duplicated in CMT1A (5H5), but the proximal breakpoint associated with the CMT1A duplication is not the same as the distal SMS breakpoint we studied.
Although Smith-Magenis syndrome involves a deletion of proximal 17p, some of the clinical features of this mosaic trisomy 17 patient, such as decreased REM sleep and increased tolerance to pain, are suggestive of phenotypic features observed in Smith-Magenis syndrome.
Comparison of these data with the available genetic and physical maps of 17p12 --> p11 shows that this region, which is frequently subject to rearrangement-inducing diseases, such as Smith-Magenis syndrome, Charcot-Marie-Tooth type 1A, and HNPP, presents recombination hot spots.
Comparison of these data with the available genetic and physical maps of 17p12 --> p11 shows that this region, which is frequently subject to rearrangement-inducing diseases, such as Smith-Magenis syndrome, Charcot-Marie-Tooth type 1A, and HNPP, presents recombination hot spots.
Comparison of these data with the available genetic and physical maps of 17p12 --> p11 shows that this region, which is frequently subject to rearrangement-inducing diseases, such as Smith-Magenis syndrome, Charcot-Marie-Tooth type 1A, and HNPP, presents recombination hot spots.
In study A we tested sera from 52 normal subjects, 25 newly diagnosed type 1 diabetics and 3 stiff man syndrome (SMS) subjects detecting GAD65 autoantibodies in 72% of IDDM and 100% of SMS patients.
In study A we tested sera from 52 normal subjects, 25 newly diagnosed type 1 diabetics and 3 stiff man syndrome (SMS) subjects detecting GAD65 autoantibodies in 72% of IDDM and 100% of SMS patients.
Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS).
The duplication was extensive and included proximal p53 and D17S122, Charcot-Marie-Tooth type 1A (CMT1A), but not D17S29, the Smith-Magenis syndrome (SMS) region.
The duplication was extensive and included proximal p53 and D17S122, Charcot-Marie-Tooth type 1A (CMT1A), but not D17S29, the Smith-Magenis syndrome (SMS) region.
Although contained within the SMS common deletion interval, FISH experiments show that ZNF179 is not deleted in two SMS patients with smaller deletions.
These findings suggest a possibility that Bfp might be involved in the pathogenesis of Smith-Magenis syndrome as a regulator protein related to neural differentiation and function.
We identified a patient with multifocal mononeuropathies and mild distal neuropathy, growth hormone deficiency, and mild mental retardation who was found to have a duplication of the SMS region of 17p11.2 and a deletion of the peripheral myelin protein 22 (PMP22) gene within 17p12 on the homologous chromosome.
Thus, our data suggest that there is no association between i(17q) and coding TP53 mutations, and that another tumor suppressor gene(s), located in proximity of the SMS common deletion region, or in a more distal location, is of pathogenetic importance in i(17q)-associated leukemia.