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The 2010 GOLDEN HELIX Symposium “Genetic Analysis in Translational Medicine” was held in Athens, Greece, 1–4 December 2010. The scientific program covered all aspects of this discipline, including genome‐wide association studies, genomics of cancer and human disorders, molecular...
For most Mendelian disorders, targeted genome sequencing is an effective method to detect causative mutations. However, sequencing PCR‐amplified exonic regions and their intronic boundaries can miss large deletions or duplications and mutations that lead to PCR failures in autosomal dominant...
Hereditary sensory and autonomic neuropathy type I (HSAN‐I) is an axonal peripheral neuropathy leading to progressive distal sensory loss and severe ulcerations. Mutations in SPTLC1 and SPTLC2, encoding the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and...
Identifying how natural selection has affected immunity‐related genes can provide insights into the mechanisms that have been crucial for our survival against infection. Rare disorders of either chain of the IFN‐γ receptor, but not of IFN‐γ itself, have been shown to confer predisposition...
Mutations associated with tumorigenesis may either arise somatically or can be inherited through the germline. We performed a comparison of somatic, germline, shared (found in both soma and germline) and somatic recurrent mutational spectra for 17 human tumor suppressor genes, which focused upon...
Bardet‐Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families...
Deficiency of carbamoyl phosphate synthetase I (CPSI) results in hyperammonemia ranging from neonatally lethal to environmentally induced adult‐onset disease. Over 24 years, analysis of tissue and DNA samples from 205 unrelated individuals diagnosed with CPSI deficiency (CPSID) detected 192...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5...
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