在一名运动迟缓、生长衰竭和克氏综合征患者中使用SNP阵列检测到TBL1XR1基因的新的部分缺失。

IF 1.7 4区 生物学 Q4 CELL BIOLOGY
Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-10-16 DOI:10.1159/000534530
Elena García-Payá, Paula Sirera Sirera, Isabel Huertas-García, Sofía Daniela Hernández Romero, Julia Olivas García
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引用次数: 0

摘要

引言:致病拷贝数变异与非整倍体共存是一种罕见的现象。全TBL1XR1基因缺失被描述为常染色体显性遗传性智力发育障碍-41(#616944)。然而,对TBL1XR1部分缺失的表型表达的描述很少。病例介绍:我们描述了一名18个月大的男性病例,除了克氏综合征(KS)外,他还表现出运动发育迟缓、步态障碍、轻度全身性肌张力减退、轻微畸形特征和生长衰竭。单核苷酸多态性阵列揭示了202kb大小的染色体3q26.32的从头致病性间质缺失,该缺失包含一个相关编码基因TBL1XR1(*608628)的前两个外显子。该患者扩展了TBL1XR1基因致病性变体的表型谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.

Introduction: Co-existence pathogenic copy number variation with aneuploidy is a rare phenomenon. Whole TBL1XR1 gene deletions are described and associated with autosomal dominant intellectual development disorder-41 (#616944). However, the phenotypical expression of the TBL1XR1 partial deletion is poorly described.

Case presentation: We describe the case of a male, aged 18 months, who presented delayed motor development, gait disturbance, mild generalized hypotonia, minor dysmorphic features, and growth failure, in addition to Klinefelter syndrome (KS). The single nucleotide polymorphism array revealed the de novo pathogenic interstitial deletion of chromosome 3q26.32 of 202 kb size that encompassed the first two exons of one relevant coding gene: TBL1XR1 (*608,628).

Conclusion: We report a male without clinical signs of KS and overlapped phenotypical features with another TBL1XR1-related disease: Pierpont syndrome (#602342). This patient extends the phenotypic spectrum of TBL1XR1 gene pathogenic variants.

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来源期刊
Cytogenetic and Genome Research
Cytogenetic and Genome Research 生物-细胞生物学
CiteScore
3.10
自引率
5.90%
发文量
25
审稿时长
1 months
期刊介绍: During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.
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