Tang Hao, Feuchtbaum Lisa, Sciortino Stanley, Matteson Jamie, Mathur Deepika, Bishop Tracey, Olney Richard S
Genetic Disease Screening Program, California Department of Public Health, 850 Marina Bay Parkway, MS 8200, USA;
Int J Neonatal Screen. 2020 Feb 7;6(1):9. doi: 10.3390/ijns6010009. eCollection 2020 Mar.
The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: (1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, (2) gene sequencing analysis. This study examines results from the first year of screening in a large and diverse screening population. With 453,152 screened newborns, the birth prevalence and GAA enzyme activity associated with various types of Pompe disease classifications are described. The frequency of gene mutations and allele variants are reported. Of 88 screen positives, 18 newborns were resolved as Pompe disease, including 2 classic infantile-onset and 16 suspected late-onset form. The c.-32-13T>G variant was the most common pathogenic mutation reported. African American and Asian/Pacific Islander newborns had higher allele frequencies for both pathogenic and pseudodeficiency variants. After the first year of Pompe disease screening in California, the disease distribution in the population is now better understood. With the ongoing long-term follow-up system currently in place, our understanding of the complex genotype-phenotype relationships will become more evident in the future, and this should help us better understand the clinical significance of identified cases.
加利福尼亚州公共卫生部于2018年8月开始对庞贝病进行新生儿普遍筛查，采用两级检测流程，包括：（1）酸性α-葡萄糖苷酶（GAA）酶活性检测，随后进行（2）基因测序分析。本研究调查了一个庞大且多样化的筛查人群第一年的筛查结果。在453,152名接受筛查的新生儿中，描述了与各种类型庞贝病分类相关的出生患病率和GAA酶活性。报告了基因突变和等位基因变异的频率。在88例筛查呈阳性的新生儿中，18例被确诊为庞贝病，其中包括2例典型婴儿型和16例疑似晚发型。c.-32-13T>G变异是报告中最常见的致病突变。非裔美国人和亚太岛民新生儿的致病和假缺陷变异等位基因频率较高。在加利福尼亚州进行庞贝病筛查的第一年之后，现在对该疾病在人群中的分布有了更好的了解。随着目前正在进行的长期随访系统的实施，我们对复杂的基因型-表型关系的理解在未来将变得更加清晰，这应该有助于我们更好地理解已确诊病例的临床意义。
