Dental anomalies in syndromes displaying hypertrichosis in the clinical spectrum

Abstract Hypertrichosis and dental anomalies may occur alone or in combination in the spectrum of many syndromes. To identify genetic entities characterized by hypertrichosis and dental anomalies, a search was performed in the Mendelian Inheritance in Man database with the terms "hypertrichosis" or "hirsutism" and "tooth" or "dental abnormalities." Nondependent androgen metabolism disturbances were classified as hypertrichosis. Genetic entities with hypertrichosis and dental anomalies were included in the study. Additional searches were performed in the PubMed and Orphanet databases, when necessary, in order to include data from scientific articles. An integrative analysis of the genes associated with the identified syndromes was conducted using STRING to characterize biological processes, pathways, and interactive networks. The p-values were subjected to the false discovery rate for the correction of multiple tests. Thirty-nine syndromes were identified, and dental agenesis was the most frequent dental anomaly present in 41.02% (n = 16) of the syndromes. Causative genes were identified in 33 out of 39 genetic syndromes. Among them, 39 genes were identified, and 38 were analyzed by STRING, which showed 148 biological processes and three pathways that were statistically significant. The most significant biological processes were the disassembly of the nucleosome (GO:0006337, p = 1.09e-06), chromosomal organization (GO:0051276, p = 1.09e-06) and remodeling of the chromatin (GO: 0006338, p = 7.86e-06), and the pathways were hepatocellular carcinoma (hsa05225, p = 5.77e-05), thermogenesis (hsa04714, p = 0.00019), and cell cycle (hsa04110, p = 0.0433). Our results showed that the identification of hypertrichosis and dental anomalies may raise the suspicion of one of the thirty-nine syndromes with both phenotypes.

Quality indicators for inherited metabolic diseases screening tests in China / 中华检验医学杂志

Eight newborn screening quality indicators were developed though expert discussing organized by National Center for Clinical Laboratories according to NBS quality management in USA .These indicators can not only be used to evaluate the performance throughout critical aspects of pre -examination, examination and post-examination processes for routine tests , but also be applied to monitor a series of processes from specimen collecting to results interpretation in newborn screening .Meanwhile, NCCL can use these quality indicators to carry out External Quality Assessment programs in order that the total service quality of newborn screening can be improved.

Application of digital PCR for non-invasive prenatal diagnosis of inherited diseases / 中华检验医学杂志

Inherited diseases are characterized with a great variety of clinical entities, complex underlying etiologies, and absence of effective treatment, emerging as one of the significant threats to human′s, esp., the health and wellbeing women and children.It′s long been recognized as a powerful and cost-effective strategy to implement prenatal diagnosis for inherited diseases with an array of advanced molecular diagnostics to reduce the nationwide rate of birth defects.Recently, non-invasive prenatal diagnosis for inherited diseases is increasingly applied in research as well as in clinical practice.Digital PCR is a novel technology characterized with superb sensitivity, high accuracy, and absolute quantitation of DNA, and has demonstrated excellent performance in non-invasive prenatal diagnosis of several hereditary disorders, including spinal muscular atrophy, sickle cell anemia, and hemophilia.It′s believed that digital PCR has more to offer in improving non-invasive prenatal diagnosis of inherited diseases in future.

Research progress in international standard materials used for molecular diagnosis / 中华检验医学杂志

Benefit from the completion of human genome project and the rapid development of bioinformatics,the clinical molecular diagnostics continues to expand its scope of application which involves more widely use in infectious diseases,genetic diseases and tumors and other aspects.In the clinical molecular diagnostics,the application of international standard materials could effectively guarantee the quality of laboratory tests.This paper reviews the research progress in well-established international standard materials used for molecular diagnosis.

Laminopathies —one gene, multiple diseases / 北京大学学报(医学版)

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.