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与PLAG1相关的Silver-Russell综合征的临床特征:临床报告

Ping Dong¹, Nan Zhang², Ying Zhang¹

¹Department of Child Healthcare, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, PR China.

European journal of medical genetics

|September 6, 2023

概括

这项研究报告了一例由PLAG1基因变异引起的Silver-Russell综合征 (SRS) 的新病例. 这一发现扩大了已知的遗传原因和SRS的表型谱.

科学领域:

遗传学是一个遗传学.
儿科儿科儿科
内分泌学在内分泌学.

背景情况:

银-拉塞尔综合征 (SRS) 是一种罕见的遗传疾病,其特征是产前和产后生长迟缓.
常见的原因包括染色体11p15低甲基化和染色体7的母亲单亲异构.
像HMGA2,IGF2,CDKN1C和PLAG1这样的基因中的致病变体也与SRS有关.

研究的目的:

报告与PLAG1基因变异相关的SRS新病例.
将临床和遗传发现与之前报告的PLAG1相关SRS.病例进行比较.
扩大对SRS.分子基础和表型变异性的理解.

主要方法:

在临床怀疑SRS的婴儿身上进行了基于trio的全外序列测序.
在PLAG1基因 (NM_002655.3:c.131del; p.
家庭分离分析证实,该变种是从父亲遗传的.

主要成果:

患者呈现了经典的SRS特征:产前/产后生长迟缓,出生时相对的大脑,突出的额头和三角形的脸.
确定的PLAG1变种代表了与SRS相关的第六个已记录的病例.
患者没有出现食困难,甲状腺功能低下症或精神运动/言语延迟.

结论:

这项研究确定了一种新型的PLAG1变异导致SRS,增加了已知的综合征遗传景观.
这些发现有助于更全面地了解SRS的分子谱和临床表现.
对与PLAG1相关的SRS进行进一步的研究是有必要的,以阐明基因型-表型相关性.

关键词:

临床表征临床表征突变突变是一种突变.这就是PLAG1的原因.银 - 拉塞尔综合征银 - 拉塞尔综合征

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