One patient with perinatal hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene / 中华内分泌代谢杂志

Objective:To explore the clinical and genetic characteristics of a Chinese baby with perinatal hypophosphatasia (HPP) and his parents for better understanding of the disease.Methods:The clinical data of the patient with HPP was carefully collected. The laboratory and radiographic examination data were taken for this baby patient. Sequencing for all the twelve tissue-nonspecific alkaline phosphatase(ALPL) exons and the flanking exon-intron junctions were performed in the proband and his parents with their genomic DNA from peripheral blood.Results:The blood level of alkaline phosphatase was decreased in this patient while serum calcium level was increased. His bone revealed chondrodysplasia-like change. Compound heterozygous mutations were found in the proband, with c. 346G>A(p.A116T) in exon 5 and c. 1171C>T(p.R391C) in exon 10. His father and mother were without clinical manifestation while respectively carried c. 346G>A(p.A116T and c. 1171C>T(p.R391C) missense mutations, suggesting an autosomal recessive inheritance in this family.Conclusion:Perinatal HPP has a high mortality rate. Skeletal deformities, hypercalcemia, and low level of ALP are important in the differential diagnosis of perinatal HPP.

Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: one case report / 中华内分泌代谢杂志

The clinical manifestation, laboratory findings, and imaging examination of a baby with familial glucocorticoid deficiency were summarized. The patient presented achypnea, cyanosis, and pigmentation of the whole body skin, no convulsion and hypoglycemia found. Laboratory findings revealed low blood cortisol and high blood ACTH levels. A 1-bp homozygous deletion(c.106+ 1delG) in intron 3 of melanocortin 2 receptor accessory protein(MRAP) gene in the patient was found. His parents were found to be heterozygous carrier for the same mutation, without any clinical manifestation.

Analysis of AVPR2 variant in a neonate with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To detect potential variant in a male neonate affected with congenital nephrogenic diabetes insipidus (CNDI).@*METHODS@#Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the child and his parents. The whole coding regions of the arginine vasopressin V2 receptor (AVPR2) gene were amplified by PCR and subjected to Sanger sequencing.@*RESULTS@#The patient presented recurrent fever and polyuria after birth. Multiple blood gas analyses indicated hypernatremia. Ultrasound showed bilateral hydronephrosis and hydroureter. The patient was partially responsive to hydrochlorothiazide. DNA analysis identified a hemizygous frameshift variant c.890-899delACCCGGAGGC in exon 2 of the AVPR2 gene in the proband. His mother was heterozygous for the same variant.@*CONCLUSION@#The c.890-899delACCCGGAGGC variant of the AVPR2 gene probably underlies the CNDI in the child. Above discovery has enriched to spectrum of CNDI associated variants.

RNF152, a novel lysosome localized E3 ligase with pro-apoptotic activities

RING finger protein 152 (RNF152) is a novel RING finger protein and has not been well characterized. We report here that RNF152 is a canonical RING finger protein and has E3 ligase activity. It is polyubiqitinated partly through Lys-48-linked ubiquitin chains in vivo and this phenomenon is dependent on its RING finger domain and transmembrane domain. RNF152 is localized in lysosomes and co-localized with LAMP3, a lysosome marker. Moreover, over-expression of RNF152 in Hela cells induces apoptosis. These results suggest that RNF152 is a lysosome localized E3 ligase with pro-apoptotic activities. It is the first E3 ligase identified so far that is involved in lysosome-related apoptosis.

Using of 16S rRNA gene chip hybridization in the diagnosis of neonatal sepsis / 中华传染病杂志

Objective To improve the speed and accuracy of bacteria detection, and develop the test of 16S rRNA genes PCR amplification plus gene chip hybridization to diagnose neonatal sepsis. Methods Bacterial 16S rRNA genes were detected in blood and CSF samples of 125 suspected neonatal sepsis, and the results were compared with blood culture, CSF culture, and non-specific diagnostic parameters (WBC, PLT, CRP). 30 non-infectious neonates were regarded as the negative control group. Gene chip test were performed by extraction of DNA, primers and probes design, PCR amplification, preparation of gene chip, hybridization, laser scan and reading of the results. 18 specific probes, including universal 1, universal 2, Gram positive bacterial probe, Gram negative bacterial probe 1, Gram negative bacterial probe 2, Staphylococcus aureus, Staphylococcus epidermidis, CoNS (Coagulase Negative Staphylococcus), Escherichia coli, Haemophilus influenzae, Listeria monocytogenes, Streptococcus pneumoniae, Streptococcus agalactiae, Bacteroides fragilis, Bacillus, Meningococcus, Corynebacterium, Propionibacterium, were used in the test. Results The positive rate of PCR test was 51.2% in 125 blood samples, and was significantly higher than the positive blood culture (25.6%), or the indicator of two abnormal non-specific parameters (32.8%) (P