经过最初的赫尔曼斯基-普德拉克综合征临床诊断后,分子检测发现了 1B 型眼皮肤白化病的变异体:病例报告。

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Joseline Serrano-González, Ingrid Montes-Rodríguez, Jessicca Y Renta, Ricardo Rojas, Carmen L Cadilla
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引用次数: 0

摘要

背景:白化病是一种异质性疾病,患者除了眼部缺陷外,皮肤、毛发和眼睛的色素完全缺失、减少或正常。赫尔曼斯基-普德拉克综合征(HPS)是白化病的异质性形式之一。HPS 的特征是白化病和因血小板中缺乏致密体而导致的出血:在本报告中,我们描述了一对波多黎各白化病兄妹的病例,他们在童年时被临床诊断为 HPS。由于他们没有波多黎各人常见的 HPS1 和 HPS3 基因的奠基变化,他们成年后想知道自己患的是哪种白化病。我们对这些家庭成员进行了外显子组测序、PCR 验证、PCR 产物克隆以及 Sanger 测序:结果:我们没有发现可以解释 HPS 诊断的基因突变。相反,我们发现这对兄弟姐妹是酪氨酸酶基因中 4 个变体的复合杂合子:c.-301C>T、c.140G>A (rs61753180; p.G47D)、c.575C>A (rs1042602; p.S192Y) 和 c.1205G>A (rs1126809; p.R402Q)。我们的结果表明,这对兄弟姐妹的正确诊断是 OCA1B:我们的研究表明,在诊断罕见遗传性疾病时,分子检测非常重要,尤其是在疾病发病率较高的人群中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.

Background: Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in Hermansky-Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets.

Methods: In this report, we describe a case of a pair of Puerto Rican siblings with albinism that were clinically diagnosed with HPS during childhood. Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the type of albinism they had. We performed exome sequencing, validation by PCR, and cloning of PCR products followed by Sanger sequencing in the family members.

Results: We discovered no mutations that could explain an HPS diagnosis. Instead, we found the siblings were compound heterozygotes for 4 variants in the Tyrosinase gene: c.-301C>T, c.140G>A (rs61753180; p.G47D), c.575C>A (rs1042602; p.S192Y), and c.1205G>A (rs1126809; p.R402Q). Our results show that the correct diagnosis for the siblings is OCA1B.

Conclusion: Our study shows the importance of molecular testing when diagnosing a rare genetic disorder, especially in populations were the disease prevalence is higher.

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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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