Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree.

AIMS: To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK). METHODS: We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100 randomly selected healthy controls. Biopsy samples were obtained from the proband. Genomic DNA was extracted from a peripheral blood sample from each participant. Mutation detection via polymerase chain reaction and Sanger sequencing of relevant potential causative genes, including KRT1, KRT6C, KRT10, KRT16, AQP5, and SERPINB7, was performed. Comparisons were made between sequencing outcomes and currently available reference genome databases, including HGMD Pro, Pubmed, 1000 Genomics, and dbSNP. RESULTS: Histological findings, clinical features, and medical history were in accordance with the diagnosis of diffuse NEPPK. We identified a novel splice-site mutation c.1255-1G > C in intron 6 of KRT1 in all individuals with NEPPK in the pedigree. CONCLUSIONS: Diffuse NEPPK is a relatively rare subtype of palmoplantar keratoderma. The results of this study expand the spectrum of KRT1 mutations in diffuse NEPPK and provide insights into the understanding of its underlying pathological mechanisms and phenotype-genotype correlations.

Micromachined Planar Supercapacitor with Interdigital Buckypaper Electrodes.

In this work, a flexible micro-supercapacitor with interdigital planar buckypaper electrodes is presented. A simple fabrication process involving vacuum filtration method and SU-8 molding techniques is proposed to fabricate in-plane interdigital buckypaper electrodes on a membrane filter substrate. The proposed process exhibits excellent flexibility for future integration of the micro-supercapacitors (micro-SC) with other electronic components. The device's maximum specific capacitance measured using cyclic voltammetry was 107.27 mF/cm² at a scan rate of 20 mV/s. The electrochemical stability was investigated by measuring the performance of charge-discharge at different discharge rates. Devices with different buckypaper electrode thicknesses were also fabricated and measured. The specific capacitance of the proposed device increased linearly with the buckypaper electrode thickness. The measured leakage current was approximately 9.95 µA after 3600 s. The device exhibited high cycle stability, with 96.59% specific capacitance retention after 1000 cycles. A Nyquist plot of the micro-SC was also obtained by measuring the impedances with frequencies from 1 Hz to 50 kHz; it indicated that the equivalent series resistance value was approximately 18 Ω.

Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria.

AIMS: To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). METHODS: We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted from peripheral blood samples. Sanger sequencing of the ADAR1 gene was performed after polymerase chain reaction amplifications. Comparisons between the DNA sequences of the affected individuals and the NCBI database were performed. RESULTS: We detected eight novel heterozygous mutations and five previously reported mutations in the ADAR1 gene in our patients. The novel mutations include c.1934 + 3A>G, c.2749A>G, c.2311insA, c.3233G>A, c.3019 + 1G>T, c.2894C>A, c.1202_1205del, and c.2280C>A. These detected novel mutations are predicted to induce two frame-shift mutations, one nonsense mutation, three missense mutations, and two splice-site mutations. CONCLUSIONS: The findings of this study expand our knowledge of the range of ADAR1 gene mutations in DSH and will contribute to identifying correlations between the various DSH phenotypes and genotypes. Furthermore, they may provide insight into the underlying pathogenic mechanism.

Low-Actuation Voltage MEMS Digital-to-Analog Converter with Parylene Spring Structures.

We propose an electrostatically-actuated microelectromechanical digital-to-analog converter (M-DAC) device with low actuation voltage. The spring structures of the silicon-based M-DAC device were monolithically fabricated using parylene-C. Because the Young's modulus of parylene-C is considerably lower than that of silicon, the electrostatic microactuators in the proposed device require much lower actuation voltages. The actuation voltage of the proposed M-DAC device is approximately 6 V, which is less than one half of the actuation voltages of a previously reported M-DAC equipped with electrostatic microactuators. The measured total displacement of the proposed three-bit M-DAC is nearly 504 nm, and the motion step is approximately 72 nm. Furthermore, we demonstrated that the M-DAC can be employed as a mirror platform with discrete displacement output for a noncontact surface profiling system.