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This corrects the article DOI: 10.1038/pr.2015.243.
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BACKGROUND: Primary distal renal tubular acidosis (DRTA) is a rare disease caused by loss-of-function mutations in at least three genes (ATP6V0A4, ATP6V1B1, and SLC4A1) involved in urinary distal acidification. The next-generation sequencing (NGS) technique facilitates the search for mutations in DRTA patients and helps to characterize the genetic and clinical spectrum of the disease. METHODS: Ten DRTA patients were studied. They had normal serum anion gap (AG), metabolic acidosis with simultaneous positive urinary AG, and inability to maximally acidify the urine. The exons of the three genes were sequenced in two pools by ultrasequencing. Putative mutations were confirmed by corresponding Sanger sequencing of each exon. RESULTS: We found 13 mutations in nine patients. ATP6V0A4: Intron16+2insA; p.R807Q; p.Q276fs; p.P395fs; Intron7-2T>C. ATP6V1B1: p.I386fs; p.R394Q. SLC4A1: p.V245M; p.R589C; p.R589H; p.G609A. One case was a compound heterozygous with a known mutation in ATP6V1B1 (p.G609R) and a pathogenic variation at SLC4A1 (p.E508K). One patient was negative for mutations. CONCLUSION: This study evidences that NGS is labor and cost effective for the analysis of DRTA genes. Our results show for the first time SLC4A1 gene mutations in Spanish patients and disclose that compound heterozygosity at two different genes can be responsible for DRTA.
Asunto(s)
Acidosis Tubular Renal/genética , Acidosis Tubular Renal/fisiopatología , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Equilibrio Ácido-Base , Acidosis/sangre , Niño , Preescolar , Análisis Costo-Beneficio , Exones , Femenino , Variación Genética , Heterocigoto , Humanos , Lactante , Recién Nacido , Masculino , MutaciónRESUMEN
Emergent technologies that make use of novel materials and quantum properties of light states are at the forefront in the race for the physical implementation, encoding and transmission of information. Photonic crystals (PCs) enter this paradigm with optical materials that allow the control of light propagation and can be used for optical communication, and photonics and electronics integration, making use of materials ranging from semiconductors, to metals, metamaterials, and topological insulators, to mention but a few. Here, we show how designer superconductor materials integrated into PCs fabrication allow for an extraordinary reduction of electromagnetic waves damping, making possible their optimal propagation and tuning through the structure, below critical superconductor temperature. We experimentally demonstrate, for the first time, a successful integration of ferroelectric and superconductor materials into a one-dimensional (1D) PC composed of [Formula: see text] bilayers that work in the whole visible spectrum, and below (and above) critical superconductor temperature [Formula: see text]. Theoretical calculations support, for different number of bilayers N, the effectiveness of the produced 1D PCs and may pave the way for novel optoelectronics integration and information processing in the visible spectrum, while preserving their electric and optical properties.