rac1相关智力发育障碍的多种临床表现。

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2025-01-21 DOI:10.1002/ajmg.a.63991

Jariya Upadia, Jiao Liu, Caide Bier, Madeline Chenevert, Yuwen Li

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引用次数: 0

摘要

RAC1编码ras相关C3肉毒毒素底物1 （RAC1）蛋白，在多种细胞功能中起关键作用。RAC1的致病变异与罕见的智力发育障碍常染色体显性48 （MRD48）有关。我们提出一个典型的表现型和两个病例与轻度表现型。本报告扩展了MRD48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。

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Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.

RAC1 encodes the protein RAS-related C3 Botulinum Toxin Substrate 1 (RAC1), which plays a pivotal role in various cellular functions. Pathogenic variants in RAC1 are linked to the rare intellectual developmental disorder, autosomal-dominant 48 (MRD48). We present one case with typical phenotype and two cases with a mild phenotype. This report expands the phenotypic spectrum of MRD48.

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .