■范可尼贫血(FA)是一种异质性遗传性疾病,其特征是进行性骨髓衰竭,先天性畸形,易患恶性肿瘤,身材矮小。RFWD3基因最近与FA互补组W、到目前为止,文献中仅报道了1例患者。
■这里,我们报告第二个病人,一个10岁的男性,谁不能茁壮成长,中枢神经系统异常,双侧射线缺陷,泌尿生殖系统异常,面部畸形,和血小板减少症.根据上述发现,该患者被怀疑患有FA,通过全外显子组测序检测到RFWD3基因中的纯合c.1501C>T变异。二环氧丁烷试验和丝裂霉素C诱导的外周血培养显示0.46和0.90染色体断裂,分别。
■在本文中,详细讨论了第二例FA补充组W患者的临床发现,旨在扩大该疾病的临床和分子生物学范围。
UNASSIGNED: Fanconi anemia (FA) is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital malformations, predisposition to malignancy, and short stature. The RFWD3 gene was recently associated with FA complementation group W, and only 1 patient is reported in the literature so far.
UNASSIGNED: Here, we report the second patient, a 10-year-old male, who has failure to thrive, central nervous system abnormalities, bilateral radial ray defects, urogenital anomalies, facial dysmorphism, and thrombocytopenia. The patient was suspected to have FA according to the aforementioned findings, and the homozygous c.1501C>T variant in the RFWD3 gene was detected by whole-exome sequencing. The diepoxybutane test and mitomycin C-induced peripheral blood cultures revealed 0.46 and 0.90 chromosomal breaks, respectively.
UNASSIGNED: In this article, clinical findings of the second patient with FA complementation group W are discussed in detail, aiming to expand the clinical and molecular spectrums of the disease.