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相关的贝克威思-维德曼综合征:第一个来自印度的患者

Veronica Arora¹, Aashita Takkar¹, Sudhisha Dubey¹

¹Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Journal of pediatric genetics

|November 6, 2024

概括

贝克维特-维德曼综合征 (BWS) 是一种儿科过度生长障碍. 一个罕见的基因变异在CDKN1C基因被确定为BWS的原因在一个年轻男孩,影响细胞循环调节和增长抑制.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
分子生物学分子生物学

背景情况:

贝克维特-维德曼综合征 (BWS) 是一种已知的儿科过度生长障碍.
在CDKN1C基因中的致病变异与大约5%的BWS病例有关.
CDKN1C基因编码了p57 (KIP2) 蛋白,它是调节细胞循环进展的循环依赖激酶 (CDK) 的关键抑制剂.

研究的目的:

描述由特定的母性遗传CDKN1C变异引起的BWS病例.
详细介绍BWS患者的自然史和不断变化的面部特征.
提供关于基因型-表型相关性和BWS的差异诊断的见解.

主要方法:

一个被诊断患有BWS的2.5岁男孩的案例报告.
基因分析以确定CDKN1C基因中的变异.
临床观察患者的发育轨迹和身体特征.

主要成果:

在CDKN1C基因中,一种母性遗传变异 (c.182G>T,p.Trp61Cys) 被确定为BWS的原因.
这种变异导致CDK的抑制功能丧失,损害了生长抑制,导致BWS表型.
该研究记录了受影响儿童中疾病的临床表现和自然进展.

结论:

这一案例突出了一个罕见的遗传机制,它是常见的过度生长综合征的基础.
了解基因型-表型相关性对于准确诊断和管理BWS至关重要.
强调了与CDKN1C变种相关的BWS的突出诊断和管理特征.

关键词:

这就是BWS的BWS.这是一个CDKN1C.这是MS-MLPA.基因型表型相关性相关性过度生长综合征过度生长综合征

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