An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-04-08 DOI:10.1590/1678-4685-GMB-2022-0335

K. Donis, M. Kalil, F. Poswar, Fernando Kok, C. L. Kohem, Soraia Poloni, Taciane Borsatto, F. Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

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引用次数: 0

Abstract

Abstract Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referred for genetic evaluation due to ectopia lentis, deafness and previous diagnosis of juvenile idiopathic arthritis. He was biochemically diagnosed as having Classic Homocystinuria (HCU); Sanger sequencing of the CBS gene showed the genotype NM_000071.2(CBS):c.[833T>C];[833T>C], compatible with the diagnosis of pyridoxine-responsive HCU. As he also had symptoms not usually associated with HCU, exome sequencing was performed. In addition to the variants found in the Sanger sequencing, the following variants were identified: NM_001256317.1(TMPRSS3):c.[413C>A];[413C>A]; and the NM_005807.6(PRG4):c.[3756dup]:[3756dup], confirming the diagnosis of autosomal recessive nonsyndromic deafness and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP), respectively. Genomic analysis allowed the refinement of the diagnosis of a complex case and improvement of the patient’s treatment.

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一名患有胱硫醚-β-合成酶缺乏症、驼背-关节病-Coxa vara-心包炎综合征和耳聋的成人：病例报告

摘要大型测序平台可鉴定涉及一种以上常染色体隐性遗传疾病的复杂临床表型。在本研究中，我们报告了一对亲缘夫妻（三代表亲）所生的一名成年患者，该患者因眼睑外翻、耳聋和既往诊断为幼年特发性关节炎而转诊进行遗传学评估。他被生化诊断为典型高胱氨酸尿症（HCU）；CBS 基因的 Sanger 测序显示基因型为 NM_000071.2(CBS):c.[833T>C];[833T>C]，符合吡哆醇反应性 HCU 的诊断。由于他还出现了通常与 HCU 无关的症状，因此对他进行了外显子组测序。除了在桑格测序中发现的变异外，还发现了以下变异：NM_001256317.1(TMPRSS3):c.[413C>A];[413C>A];和NM_005807.6(PRG4):c.[3756dup]:[3756dup]，分别确诊为常染色体隐性非综合征性耳聋和驼背-关节病-心包炎综合征（CACP）。基因组分析有助于完善对这一复杂病例的诊断，并改进对患者的治疗。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.