Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for a patient with intellectual disability, short stature and multiple congenital anomalies, and to correlate the result with the clinical phenotype.@*METHODS@#Routine karyotyping analysis was carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism (SNP) microarray was used to detect microdeletions or microduplications in the patient. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of aberrant chromosomes.@*RESULTS@#The karyotype of the patient was 46,XY,der(18), while both of his parents had a normal karyotype. SNP array identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) in the patient. Above finding was confirmed by dual-color FISH with one color for 18p and another for 18q. The patient presented with some common features of 18p deletion and 18q duplication including intellectual disability and growth retardation, in addition with some features of 18p deletion including pectus excavatum, short stature and growth hormone (GH) deficiency. The patient showed progressive improvement of stature with GH therapy. Comparison of patients with previously reported dup(18q)+del(18p) recombinations suggested that, even for patients with similar breakpoints, their phenotypes have ranged from normal to severe and there were no consistent findings.@*CONCLUSION@#As aberrations involving double chromosomal segments often result in phenotypic variability, it has been difficult to correlate the genotype of our patient with his phenotype.

Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS).@*METHODS@#Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis.@*RESULTS@#Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins.@*CONCLUSION@#The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.

Spatially-resolved near-infrared spectroscopy for bedside monitoring of shock patients / 国际生物医学工程杂志

Objective To study the feasibility of non-invasive spatially-resolved near-infrared spectroscopy (SR-NIRS) in clinical bedside monitoring of shock.Methods The central venous blood samples of 25 patients with shock were collected and the central internal jugular central vein oxygenation (ScvO2) level was measured.The self-developed non-invasive SR-NIRS device was used to measure tissue blood oxygen saturation (StO2) surrounding the region of jugular central vein.In addition,the artery oxygen saturation (SaO2) and partial pressure of oxygen (PO2) were also measured using conventional methods.The correlation between StO2 between ScvO2,SaO2 and PO2 was analyzed.Results StO2 levels in shock patients were highly correlated with ScvO2 levels (r=0.84,P＜0.001) and the concordance coefficient of 0.80 was high.Conclusion StO2 value collected from the surrounding region of jugular central vein by SR-NIRS device can be used as an indicator of shock suggesting the potential of noninvasive SR-NIRS for bedside shock monitoring.