Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the "extended" phenotype

High resolution oligonucleotide array Comparative Genome Hybridization technology (array-CGH) has greatly assisted the recognition of the 1p36 contiguous gene deletion syndrome. The 1p36 deletion syndrome is considered to be one of the most common subtelomeric microdeletion syndromes and has an incidence of ~1 in 5000 live births, while respectively the "pure" 1p36 microduplication has not been reported so far. We present seven new patients who were referred for genetic evaluation due to Developmental Delay (DD), Mental Retardation (MR), and distinct dysmorphic features. They all had a wide phenotypic spectrum. In all cases previous standard karyotypes were negative. Array-CGH analysis revealed five patients with interstitial 1p36 microdeletion (four de novo and one maternal) and two patients with de novo reciprocal duplication of different sizes. These were the first reported "pure" 1p36 microduplication cases so far. Three of our patients carrying the 1p36 microdeletion syndrome were also found to have additional pathogenetic aberrations. These findings (del 3q27.1; del 4q21.22-q22.1; del 16p13.3; dup 21q21.2-q21.3; del Xp22.12) might contribute to the patients' severe phenotype, acting as additional modifiers of their clinical manifestations. We review and compare the clinical and array-CGH findings of our patients to previously reported cases with the aim of clearly delineating more accurate genotype-phenotype correlations for the 1p36 syndrome that could allow for a more precise prognosis.     

SRO9基因参与调控酿酒酵母内质网应激反应

【目的】研究酵母SRO9基因在内质网应激(Endoplasmic reticulum stress,ERS)中的作用。【方法】利用PCR介导的同源重组方法构建SRO9基因缺失菌株,检测其在内质网应激诱导剂衣霉素处理条件下的克隆形成能力;通过比色法检测细胞内的H2O2含量,超氧化物歧化酶SOD活性和细胞增殖能力;通过实时荧光定量PCR检测内质网应激靶基因和超氧化物歧化酶编码基因SOD1及SOD2的转录水平。【结果】相对于野生型酵母菌株,SRO9基因缺失酵母菌株对内质网应激诱导剂衣霉素的抗性增强,参与内质网应激反应的靶基因转录上调;细胞内H2O2含量下降,SOD1、SOD2转录水平降低,总SOD活性降低;对氧化剂CHP和VK3的抵抗性减弱,复制寿命明显缩短。【结论】SRO9基因缺失酵母细胞对内质网应激诱导剂衣霉素的抗性增强,原因可能是由于SRO9基因缺失激活了细胞的内质网应激反应。     

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Microdeletions spanning 2p14–p15 have recently been described in two patients with developmental and speech delay and intellectual disability but no congenital malformations or severe facial dysmorphism. We report a 4-year-old boy with a de novo 3.7 Mb long deletion encompassing the region deleted in the previous cases. The patient had clinical features partly consistent with the published cases including intellectual disability, absent speech, microcephaly, long face, bulbous nasal tip and thin upper lip, but his overall clinical picture was more severe compared to the published patients. The identification of this additional patient and a detailed analysis of deletions identified in various patient cohorts and in normal individuals support the existence of a new rare microdeletion syndrome in 2p14–p15. Its critical region is in the vicinity of but clearly separate from the minimal region deleted in the well established 2p15–p16.1 microdeletion syndrome. A thorough comparison of the deletions and phenotypes indicates that multiple genes located in this region may be involved in intellectual functioning, and that some patients may show composite and more complex phenotypes due to deletions spanning both critical regions.     

Anatomic Twist to a Straightforward Ablation

Atrioventricular (AV) junction ablation for treatment of refractory atrial fibrillation is a well defined, standardized procedure and the simplest of commonly performed radiofrequency ablations in the field of cardiac electrophysiology. We report successful AV junction ablation using an inferior approach in a case of inferior vena cava interruption. Inability during the procedure to initially pass the ablation catheter into the right ventricle, combined with low amplitude electrograms, led to suspicion of an anatomic abnormality. This was determined to be a heterotaxy syndrome with inferior vena cava interruption and azygos continuation, draining in turn into the superior vena cava. Advancing Schwartz right 0 (SRO) sheath through the venous abnormality into the right atrium allowed adequate catheter stability to successfully induce complete AV block with radiofrequency energy.     

The similar to RCD-one 1 protein SRO1 interacts with GPX3 and functions in plant tolerance of mercury stress

Heavy metals in the environment are one of the major limiting factors affecting plant growth and development. However, the mechanisms of the heavy metal-induced physiological processes remain to be fully dissected. Here, we explored that SRO1 can physically interact with Glutathione Peroxidase 3 (GPX3) in Arabidopsis. Under Hg treatment, similar to the sro1, the growth of the gpx3/sro1 was repressed more seriously and the number of true leaves was more reduced and etiolated than that of the wild type and gpx3 plants. The electrolyte leakage rates showed that cell membrane integrity in gpx3/sro1 was damaged more severely than in the wild type and gpx3 mutant. The Real-time PCR results have shown that the expression of the APX1 and CAT3 was reduced under mercury stress in the sro1 and sro1/gpx3. Our results suggested that the combination of the SRO1 and GPX3 may be contributed to plant response to mercury stress by regulating ROS intracellular oxidative homeostasis.