坦桑尼亚罹患 Wilms 肿瘤的兄弟姐妹中的新型 CTR9 基因致病剪接位点变异。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2024-09-16 DOI:10.1016/j.ejmg.2024.104973
Ali Iman , Esther Majaliwa , Lossim G. Kambainei , Alex Mremi , Arjen R. Mensenkamp , Ben C. Hamel
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引用次数: 0

摘要

Wilms 肿瘤是最常见的儿童肾脏恶性肿瘤。虽然大多数情况下是非遗传性的,但它可以是综合征,涉及许多 Wilms 肿瘤易感基因,也可以是非综合征,涉及四个基因:WT1、REST、TRIM28 和 CTR9。家族性和双侧 Wilms 肿瘤确实存在,但非常罕见。迄今为止,已有 4 个 Wilms 肿瘤家族描述了 CTR9 基因的致病变异,全部(可能)遗传自未受影响的父亲,其中 3 个导致第 9 号外显子缺失。我们报告了一对女性兄弟姐妹,其中一人患有双侧 Wilms 肿瘤,她们的 CTR9 基因存在一个新的致病剪接位点变异,导致第 9 号外显子缺失,遗传自她们无症状的父亲。肿瘤中的杂合性缺失已得到证实。总之,CTR9 致病变体是导致 Wilms 肿瘤的一个非常罕见的原因,通常会导致家族性 Wilms 肿瘤。
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Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania
Wilms tumor is the most common childhood renal malignancy. Though mostly non-genetic, it can be syndromic with the involvement of many Wilms tumor predisposing genes and non-syndromic with the involvement of four genes: WT1, REST, TRIM28, and CTR9. Familial and bilateral Wilms tumors do occur, but these are rare. So far, four Wilms tumor families with pathogenic variants in the CTR9 gene have been described, all (presumably) inherited from unaffected fathers, and three leading to deletion of exon 9. We are reporting female siblings, of whom one has a bilateral Wilms tumor, with a novel pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from their asymptomatic father. The loss of heterozygosity in the tumor was confirmed. In conclusion, CTR9 pathogenic variants are a very rare cause of Wilms tumors and typically result in familial Wilms tumors.
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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