A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou.

Background: To estimate the overall situation of Duchenne muscular dystrophy (DMD) screening in newborns in Guangzhou, China.

Method: A total of 62553 newborns including 44268 males and 18285 females were screened for DMD by measuring muscle specific creatine kinase isoform (CK-MM) concentrations using the GSP® Neonatal CK-MM kit based on time-resolved immunofluorescence. We recalled positive cases and recollected dried blood spots (DBS) for retest of CK-MM.

AAV9-coGLB1 Improves Lysosomal Storage and Rescues Central Nervous System Inflammation in a Mutant Mouse Model of GM1 Gangliosidosis.

Background: GM1 gangliosidosis (GM1) is an autosomal recessive disorder characterized by the deficiency of beta-galactosidase (β-gal), a ubiquitous lysosomal enzyme that catalyzes the hydrolysis of GM1 ganglioside.

Objective: The study aims to explore the application of the AAV9-coGLB1 for effective treatment in a GM1 gangliosidosis mutant mouse model.

Methods: We designed a novel adeno-associated virus 9 (AAV9) vector expressing β-gal (AAV9- coGLB1) to treat GM1 gangliosidosis.

Detection of glucosylsphingosine in dried blood spots for diagnosis of Gaucher disease by LC-MS/MS.

Introduction: Gaucher disease (GD) is caused by a deficiency of β-glucosidase (GCase), leading to accumulation of glucosylceramide (GlcC) and glucosylsphingosine (Lyso-Gb1). Lyso-Gb1 is a reliable biomarker for GD.

Objectives: This study aims to develop a simple, effective and accurate method for the screening and diagnosis of GD using dried blood spot (DBS) samples.

High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.

Gaucher disease (GD) is a common lysosomal storage disorder caused by deficiency of glucocerebrosidase (GCase) due to the pathogenic variants in the GBA gene. The aim of this study was to evaluate the performance of high risk screening program for GD by measuring the enzyme activities of GCase and chitotriosidease in dried blood spots of patients with splenomegaly and/or thrombocytopenia. A total of 787 subjects (364 females and 423 males) with unexplained splenomegaly and/or thrombocytopenia were enrolled in this study from May 2016 to Aug 2019.

Same-sex twins have a high incidence of congenital hypothyroidism and a high probability to be missed at newborn screening.

Background: We estimated the incidence of CH in twins, analyse the clinical features of CH cases in twins and further evaluate the CH screening strategy and recall procedures for twins.

Methods: A retrospective investigation of the screening results and confirmed cases in 724,791 newborns was conducted from 2015 to 2017 in Guangzhou. Clinical features were compared between twins with CH and singletons with CH.

The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.

Background Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling. Methods The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns.

Identification of an inherited pathogenic DNAJC12 variant in a patient with hyperphenylalalinemia.

Hyperphenylalaninemia (HPA), an abnormal condition of phenylalanine metabolism, was recently reported to be caused by DNAJC12 mutations. As the heat shock co-chaperone, DNAJC12 prevents the aggregation of misfolded or aggregation-prone proteins and maintain the correct assembly and degradation. Here, we report a patient with unexplained HPA detected by newborn screening.

[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism].

Objective: To investigate the characteristics of DUOXA2 gene mutation and the genotype-phenotype relationship in children with congenital hypothyroidism (CH) in Guangzhou, China.

Methods: A total of 20 CH patients with suspected thyroid dyshormonogenesis who had no DUOX2 gene mutation were enrolled. These patients who were born between 2011 and 2012 were screened and diagnosed with CH in the Guangzhou Newborn Screening Center.

Transcriptome de novo assembly and analysis of differentially expressed genes related to cytoplasmic male sterility in cabbage.

Cytoplasmic male sterility (CMS) is a maternally inherited trait producing abnormal pollen during anther development. To identify the critical genes and pathways that are involved in the sterility and to better understand the underlying mechanisms, cabbage anthers at different developmental stages were cytologically examined and the transcriptomes were analyzed in CMS line and its maintainer line using the next-generation sequencing (NGS) technology. Microscopy showed that anther development in the CMS line was abnormal in the tetrad stage and failed to produce fertile pollen.