Fragile X Disorders among Nigerian Children with neurodevelopmental delays and women with suspected Fragile X-associated Primary Ovarian Insufficiency

This dataset contains information of a pilot targeted screening for Fragile X disorders among Nigerian children with neurodevelopmental disorders and women with Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The study hypothesized that Fragile X-related mutations are underrecognized in Nigeria. The dataset includes sociodemographic, clinical, and molecular genetic data obtained through clinical assessment and FMR1 PCR-based testing. Children screened had autism, intellectual disability, developmental delay, and related disorders, while women had features suggestive of FXPOI. The data demonstrates the feasibility of targeted Fragile X screening in Nigeria and provide insight into the clinical presentation and distribution of Fragile X-related mutations in an understudied African population.

本数据集收录了一项针对尼日利亚神经发育障碍儿童与脆性X相关原发性卵巢功能不全（Fragile X-associated Primary Ovarian Insufficiency, FXPOI）女性群体的脆性X（Fragile X）靶向筛查预试验相关信息。本研究假设，脆性X相关突变在尼日利亚的检出率未被充分识别。该数据集包含通过临床评估与基于FMR1基因聚合酶链式反应（PCR）检测获取的社会人口学资料、临床数据及分子遗传学数据。本次筛查纳入的受试儿童均患有孤独症、智力障碍、发育迟缓及相关神经发育疾患，受试女性则均表现出符合FXPOI的临床特征。本数据集证实了在尼日利亚开展脆性X靶向筛查的可行性，并为解析这一未被充分研究的非洲人群中脆性X相关突变的临床表型与分布规律提供了关键依据。