V122I is one of more than 130 mutations in transthyretin gene associated with hereditary TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic cardiomyopathy with mild or no neurological symptoms. It is particularly common among African‐Americans (prevalence: 3%‐4%). We report 12 subjects from seven unrelated Caucasian families hailing from Sicily and carrying the V122I mutation. One patient was homozygous for V122I and in another family two subjects also carried the E89Q variant in compound heterozygosity. All the subjects underwent neurologic/neurophysiologic evaluation and cardiologic baseline tests; in five of them, cardiac magnetic resonance and/or (99 m) Tc‐DPD scintigraphy were performed. Three of 12 subjects were asymptomatic carriers. Of the remaining nine subjects, in four of nine patients, the nerve conduction studies revealed a polyneuropathy; in one of them, this represents the only sign of disease after 5 years of follow‐up. In eight of nine subjects, we found a hypertrophic restrictive cardiomyopathy and cardiac failure, associated with a carpal tunnel syndrome. Although in non‐Afro‐American individuals V122I prevalence is low, subjects carrying this mutation have been identified in the United Kingdom, Italy, and France. Our report describes a large cohort of V122I Caucasian patients from a non‐endemic area, confirming the possible underestimation of this mutation in the non‐African population. Moreover, it highlights the heterogeneity in the genotype‐phenotype correlation of ATTRv mutations, suggesting that the presence of a polyneuropathy has to be identified as soon as possible, since available treatments are, in Europe, so far authorized only for ATTRv amyloid peripheral neuropathy.

中文翻译：

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大量患有 V122I ATTRv 淀粉样变性的白人患者的描述：神经学和心脏病学特征。

V122I 是与遗传性 TTR (ATTRv) 淀粉样变性相关的转甲状腺素蛋白基因的 130 多个突变之一。主要临床表现为浸润性假肥厚型心肌病，神经系统症状轻微或无。这在非裔美国人中尤为常见（患病率：3% ‐4%）。我们报告了来自西西里岛并携带 V122I 突变的七个无关白人家庭的 12 名受试者。一名患者是 V122I 纯合子，在另一个家庭中，两名受试者也携带复合杂合子的 E89Q 变体。所有受试者均接受神经学/神经生理学评估和心脏基线测试；其中五个进行了心脏磁共振和/或 (99 m) Tc-DPD 闪烁扫描。12 名受试者中有 3 名是无症状携带者。在其余九名受试者中，九名患者中有四名，神经传导研究显示多发性神经病；在其中之一中，这是 5 年随访后唯一的疾病迹象。在九名受试者中的八名中，我们发现肥厚性限制性心肌病和心力衰竭，与腕管综合征相关。尽管在非非裔美国人中 V122I 的流行率很低，但在英国、意大利和法国已经发现携带这种突变的受试者。我们的报告描述了来自非流行地区的大量 V122I 白种人患者，证实了可能低估了非非洲人群中的这种突变。此外，它强调了 ATTRv 突变的基因型-表型相关性的异质性，表明必须尽快确定多发性神经病的存在，因为可用的治疗方法在欧洲，