通过下颌神经纤维瘤诊断出 NF1 与 47,XYY 嵌合。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-05-16 DOI:10.1038/s41439-024-00279-8

Erina Tonouchi, Kei-Ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

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引用次数: 0

摘要

神经纤维瘤病 1 型（NF1）是一种常染色体显性痣病，具有多种表现，主要是咖啡色斑疹和神经纤维瘤。在此，我们介绍了一例47,XYY嵌合型NF1患者的病例，该患者因皮肤上的咖啡色黄斑和下颌神经纤维瘤而被确诊。对患者血液样本进行的靶向新一代测序发现，NF1 中存在一个新的换帧突变（NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8），该突变被认为是一种致病变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.

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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.

Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient's blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks