Exploting Zebrafish Models for Fanconi Anemia

范可尼贫血（Fanconi anemia， FA; MIM# 227650）是一种罕见的常染色体隐性遗传病，发生率为10万分之一，在美国影响约2000个家庭。FA的特征是灾难性的骨髓衰竭，通常发生在5岁，以及急性髓性白血病（AML）。除了造血功能外，范可尼贫血还常伴有特征性先天性异常，包括生长缓慢、身材矮小、小头畸形和小眼症[1]。FA最常见的先天性异常是拇指和桡骨异常或缺失，但肾脏和生殖器官也经常受到影响，尽管血细胞发育异常是发病率和死亡率的主要原因[3,4]。关于FA导致血液、骨骼、眼睛和其他器官发育异常的机制，我们的知识还存在空白。

Fanconi anemia (FA; MIM# 227650) is a rare autosomal recessive disorder appearing at a frequency of one in 100.000 and affecting approximately 2000 families in the United States. FA is characterized by catastrophic bone marrow failure, often by five years of age, and acute myeloid leukemia (AML). In addition to hematopoietic features, Fanconi Anemia is often accompanied by characteristic congenital abnormalities including slow growth, short stature, microcephaly, and microphthalmia [1]. The most common congenital anomaly in FA is an abnormal or missing thumb and radius, but kidney and reproductive organs are also frequently affected [2], although abnormal blood cell development is the main cause of morbidity and mortality [3, 4]. A gap in our knowledge is the mechanism by which FA leads to developmental anomalies in blood, skeleton, eyes, and other organs.