Clubfoot, a congenital deformity that presents as a rigid, inward turning of the foot, affects approximately 1 in 1000 infants and occurs as an isolated birth defect in 80% of patients. Despite its high level of heritability, few causative genes have been identified, and mutations in known genes are only responsible for a small portion of clubfoot heritability.

中文翻译：

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特发性马蹄内翻足患者的全外显子组测序揭示了复发性细丝蛋白 B (FLNB) 缺失。

马蹄内翻足是一种先天性畸形，表现为足部僵硬、向内翻，影响大约千分之一的婴儿，并且 80%​​ 的患者是一种孤立的出生缺陷。尽管其遗传力水平很高，但目前已鉴定出的致病基因很少，并且已知基因的突变仅对马蹄足遗传性的一小部分负责。