OBJECTIVE: This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome. METHODS: The ABHD12 gene of 2 patients, who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems, were sequenced. RESULTS: We identified that both cases carried the same novel splice site mutation in the ABHD12 gene. However, 1 had epilepsy and the other had peripheral neuropathy. Based on haplotype analysis, the mutation is likely not a hot spot, but rather could be attributable to a common ancestor. CONCLUSION: This study shows that PHARC has phenotypic variability, even within a family, which is consistent with previous reports. Differential diagnosis of "deaf-blindness" diseases is crucial. Confirming the presence of associated symptoms is necessary for differentiating some deaf-blindness syndromes. In addition, mutation analysis is a useful tool for confirming the diagnosis.
Title: Degradation of the Fungicide Benthiavalicarb-isopropyl in Soils Ikeda M, Usami S, Mizutani H, Yagi A Ref: Journal of Pesticide Science, 30:22, 2005 : PubMed
The degradation of benthiavalicarb-isopropyl (BVI) in soils was studied in the laboratory using two 14C-compounds labeled at the benzene ring and the valine-moiety. The half-life of BVI in two kinds of soils (Ushiku soil and Kakegawa soil) was less than 11 days, under both upland and flooded conditions. Five major degradation products, in addition to 14CO2, were identified. It is presumed that the degradation begins initially with hydrolytic cleavage of the amide bond, followed by several processes resulting in the final production of 14CO2.
Title: Cloning and sequencing of the cDNA encoding lipase I from Trichosporon fermentans WU-C12 [published erratum appears in FEMS Microbiol Lett 1997 Sep 15;154(2):423-4] Arai T, Yusa S, Kirimura K, Usami S Ref: FEMS Microbiology Letters, 152:183, 1997 : PubMed
A cDNA clone encoding extracellular lipase I (TFL I) from Trichosporon fermentans WU-C12 was isolated and characterized. The TFL I cDNA was isolated from a lambda gt10-based cDNA library using as a probe a 0.8 kb fragment, amplified by PCR with synthetic oligonucleotide corresponding to the partial amino acid sequences of TFL I. The cDNA encodes a protein consisting of 563 amino acids containing a putative signal peptide of 19 amino acids. The deduced amino acid sequence shares 99.5% overall identity with that of lipase II (GCL II) from Geotrichum candidum ATCC 34614, whereas TFL I is a trimer enzyme and GCL II monomer. Southern hybridization with the TFL I cDNA as a probe revealed that WU-C12 contained two different lipase genes.
