A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy

Purpose: To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti's crystalline corneoretinal dystrophy (BCD). Methods: Using direct sequencing, mutation screening was performed in the CYP4V2 gene of both the patient with BCD and her daughter. Ophthalmic examinations were performed to determine the clinical features of both subjects. Results: The 64-year-old female patient had a bilateral visual acuity of 0.4. Slit lamp examination revealed bilateral crystalline-like deposits at the superior limbus of the cornea. Fundus examination revealed there was chorioretinal atrophy along with numerous glistening yellowish-white crystalline deposits that were scattered throughout the posterior pole and the mid-peripheral retina. Standard flash electroretinography showed an extinguished electroretinogram and Goldmann kinetic perimetry detected a relative scotoma. Genetic analysis revealed that the patient had a heterozygous mutation in the CYP4V2 gene (IVS6-8delTCATACAGGTCATCGCG/GC), which is the most commonly found mutation in Japanese patients with BCD. Furthermore, the patient was also shown to have a novel heterozygous point mutation in exon 9 of the CYP4V2 gene (c.1168C>T). In contrast, her daughter exhibited no clinical findings for BCD even though she carried the same heterozygous mutation in the CYP4V2 gene (c.1168C>T). Conclusion: A novel compound heterozygous mutation was found in the CYP4V2 gene of a patient with BCD. This previously unreported c.1168C>T mutation causes a missense mutation (p.R390C) in the CYP4V2 protein

Mapping distribution of Dipterocarpus in East Kalimantan, Indonesia

Dipterocarps (Dipterocarpaceae) is a dominant tree family of tropical rainforest in Southeast Asia. Dipterocarps have been exploited for its timber and disappearing fast in East Kalimantan. In this study, we predicted the distribution of dipterocarpus, one of the main dipterocarps genera, by evaluating its habitat suitability using logistic regression analysis with specimen collection points and environmental factors from GIS data. Current distribution of dipterocarpus was generated by combining the habitat suitability classes with an updated forest cover map. Rainfall, soil type, followed by elevation was the main factors that influence the distribution of dipterocarpus in East Kalimantan. Dipterocarpus can be found in a quarter of the current forest cover, which is highly suitable as habitat of Dipterocarpus

Laser-induced local activation of Mg-doped GaN with a high lateral resolution for high power vertical devices

A method for laser-induced local p-type activation of an as-grown Mg-doped GaN sample with a high lateral resolution is developed for realizing high power vertical devices for the first time. As-grown Mg-doped GaN is converted to p-type GaN in a confined local area. The transition from an insulating to a p-type area is realized to take place within about 1–2 μm fine resolution. The results show that the technique can be applied in fabricating the devices such as vertical field effect transistors, vertical bipolar transistors and vertical Schottkey diode so on with a current confinement region using a p-type carrier-blocking layer formed by this technique