Journal article: Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
Link: https://www.sciencedirect.com/science/article/abs/pii/S0009898124020655
Summary: These researchers used newborn screening to investigate the frequency of Hermansky-Pudlak Syndrome in China. Newborn screening is not commonly used to screen for HPS in the United States because newborn screening tests are wet mount (fresh blood) tests. Genetic screening for HPS in the US is usually only done if the parents seek genetic testing for albinism. Thus, this method is not used in the US to estimate occurrence. The Chinese researchers identified hotspot mutations in seven genes associated with Hermansky-Pudlak Syndrome. Hotspot mutations mean that these segments of DNA are particularly susceptible to genetic alteration. They also found a Chinese-specific variant suggesting a potential founder effect. They determined the estimated prevalence rate of HPS in the Chinese population as 2.84 per 1,000,000. To determine this, their study looked at 29,622 newborns of Chinese descent. The newborns were recruited for the study from October 2018 to October 2023. They came from 13 provinces nationwide and were distributed across four major administrative regions of the country. Most participants were from North China (73 %), with only a small percentage from East China (8 %) and South China (7 %) The population of China is 1.43 billion.