以前未曾描述过的 ATP7B 基因同位核苷酸变异引起的威尔森氏病:临床病例

D. Chernevskiy, A. E. Lavrova, E. Konovalova, Elena Yu. Borisova, N. A. Doroshchuk, O. Groznova
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引用次数: 0

摘要

威尔逊氏病是一种严重的常染色体隐性遗传病,主要表现为肝脏、神经和精神疾病,这是因为铜在器官和组织中沉积过多。临床病例描述。在一个父母为表亲的家庭中,ATP7B 基因的 c.2111C>T (p.T704I, chr13:52534294G>A (HG19))变异具有不确定的临床价值。四个孩子中的长女在 11 岁时死于肝硬化。威尔逊氏病在两个孩子身上得到了遗传学证实(临床表现为腹型)。小儿子被诊断为杂合型疾病(无任何临床表现)。所发现的 ATP7B 基因变异先前也在另外 3 名威尔逊氏病患者身上发现过,但都是在已知致病基因变异的复合杂合状态下发现的。结论:ATP7B 基因的 c.2111C>T (p.T704I) 变异可能是致病的。需要进一步研究评估其在威尔逊氏病发病机制中的功能意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the ATP7B Gene: Clinical Cases
Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value of the ATP7B gene, c.2111C>T (p.T704I, chr13:52534294G>A (HG19)), was described in the family where parents are cousins. The eldest daughter out of four children died at the age of 11 due to liver cirrhosis. Wilson’s disease was genetically confirmed in two children (clinically — abdominal form). The younger son was diagnosed heterozygous state of the disease (without any clinical manifestations). The revealed variant of the ATP7B gene was previously identified in 3 more patients with Wilson’s disease, however, in a compound heterozygous state with known pathogenic genetic variant. Conclusion. c.2111C>T (p.T704I) variant of the ATP7B gene can be considered as probably pathogenic. Further research is required to evaluate its functional significance in Wilson’s disease pathogenesis.
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