BACKGROUND Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bone. SLC35D1 (solute carrier-35D1) is a nucleotide-sugar transporter involved ...

In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, alpha=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 u...

Background Fabry disease is a rare X-linked disorder characterized by deficiency ofa-galactosidase A, leading to progressive accumulation of glycosphingolipid in various organs, including the heart. Recently, several later-onset phenotypes of Fabry disease with residual enzyme activity have been identified. In Taiwan, several recent studies pointed out a surprisingly high incidence of a later o...

Post-transcriptional processes such as alternative splicing and RNA editing have a huge impact on the diversity of the proteome. Detecting alternatively spliced transcripts is dif®cult when they are rare. In addition, edited transcripts often differ from the genomic sequence by only a few nucleotides. Denaturing high performance liquid chromatography (DHPLC) is routinely used for single nucleot...

The SLC2A10 gene encodes the GLUT10 facilitative glucose transporter, which is expressed in high amounts in liver and pancreas. The gene is mapped to chromosome 20q12-q13.1, a region that has been shown to be linked to type 2 diabetes. The gene was examined in 61 Danish type 2 diabetic patients, and a total of six variants (-27C-->T, Ala206Thr, Ala272Ala, IVS2 + 10G-->A, IVS4 + 18T-->G, and IVS...

Mutations in the Wilms' tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant nephrotic syndrome, but, recently, four boys w...

Background Fabry disease is a rare X-linked disorder characterized by deficiency ofa-galactosidase A, leading to progressive accumulation of glycosphingolipid in various organs, including the heart. Several studies have pointed out the unique pre-contrast T1 value character of classic Fabry cardiomyopathy, which is lower than the normal myocardium. In Taiwan, several recent studies pointed out ...

PURPOSE To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). METHODS Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, res...