2型x连锁淋巴细胞增生性疾病女性患者的遗传分析1例

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL
Yalin Sun, Shu Teng, Wen Li, Huaping Wang, Zhenghong Qi
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引用次数: 0

摘要

背景:2型x连锁淋巴细胞增生性综合征是一种相对罕见的由XIAP突变引起的原发性免疫缺陷疾病。2型x连锁淋巴细胞增生性综合征通常发生在男性个体中,而女性个体是致病基因突变的携带者。此外,2型x连锁淋巴细胞增生性综合征具有复杂的临床表型。我们旨在通过对一个家族的基因检测,探讨x连锁淋巴细胞增生性综合征2型的发病机制,为临床诊断提供依据。病例介绍:收集并分析了1例2型x连锁淋巴细胞增生性综合征女性患者及其家庭的临床资料。患者年龄2岁1个月,汉族。采用甲基化敏感限制性内切酶扩增和毛细管电泳检测该家族X染色体失活。在患者及其兄弟的XIAP中发现了一种新的突变c.910G >t(鸟嘌呤到胸腺嘧啶),但在患者的父母中未发现。女性儿童染色体失活比例为86%,表明存在中度失活转移和父系失活转移。结论:应密切关注女童x染色体失活的变化。当在表型正常的母亲中未检测到致病基因变异时,不能排除性腺镶嵌现象,应在下次怀孕时进行产前遗传诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.

Background: X-linked lymphoproliferative syndrome type 2 is a relatively rare primary immunodeficiency disease caused by mutations in XIAP. X-linked lymphoproliferative syndrome type 2 typically occurs in male individuals, while female individuals are carriers of the pathogenic gene mutations. Furthermore, X-linked lymphoproliferative syndrome type 2 has a complex clinical phenotype. We aimed to explore the pathogenesis of X-linked lymphoproliferative syndrome type 2 through genetic testing of a family to provide a basis for clinical diagnosis.

Case presentation: The clinical data of a female patient with X-linked lymphoproliferative syndrome type 2 and her family were collected and analyzed. The patient was 2 years 1 months old and of Han Chinese descent. Methylation-sensitive restriction enzyme amplification and capillary electrophoresis were used to detect X chromosome inactivation in the family. A novel mutation, c.910G > T (guanine to thymine), was identified in XIAP in the patient and her brother, but was not detected in the patient's parents. The proportion of chromosomal inactivation in the female children was 86%, which indicates a moderate inactivation shift and paternal inactivation shift.

Conclusion: Close attention should be paid to shifts in X-chromosome inactivation in female children. When a pathogenic gene variant is not detected in a mother with a normal phenotype, gonadal mosaicism cannot be ruled out, and prenatal genetic diagnosis should be performed in the next pregnancy.

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来源期刊
Journal of Medical Case Reports
Journal of Medical Case Reports Medicine-Medicine (all)
CiteScore
1.50
自引率
0.00%
发文量
436
期刊介绍: JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
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