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病例报告：由FGD1基因变异引起的Aarskog-Scott综合征：一项家系研究。

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

作者信息

Liang Yijia, Wu Honglin, He Xiumei, He Xiyu

机构信息

Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.

Chinese PLA Medical College, Beijing, China.

出版信息

Front Genet. 2022 Aug 16;13:932073. doi: 10.3389/fgene.2022.932073. eCollection 2022.

DOI:10.3389/fgene.2022.932073
PMID:36051692
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9424661/
Abstract

Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients were two brothers. Then, the relationship between genotype and phenotype in Aarskog-Scott syndrome was investigated preliminarily. A new FGD1 gene variant was revealed in this study, providing insights into the link between phenotype and genotype variations in Aarskog-Scott syndrome as well as a foundation for its diagnosis and treatment.

摘要

阿斯克格-斯科特综合征是一种罕见的遗传性疾病，其特征为身材矮小、面部特征异常以及手指和生殖器畸形。FGD1基因变异是该疾病的已知病因。本文描述了一项针对阿斯克格-斯科特综合征的中国家系研究，主要患者为两兄弟。随后，对阿斯克格-斯科特综合征的基因型与表型之间的关系进行了初步研究。本研究揭示了一种新的FGD1基因变异，为深入了解阿斯克格-斯科特综合征表型与基因型变异之间的联系以及该疾病的诊断和治疗奠定了基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/9bb5c0406c03/fgene-13-932073-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/c8663a2b2a5c/fgene-13-932073-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/bc3f7f75d496/fgene-13-932073-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/3339458207a1/fgene-13-932073-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/9bb5c0406c03/fgene-13-932073-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/c8663a2b2a5c/fgene-13-932073-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/bc3f7f75d496/fgene-13-932073-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/3339458207a1/fgene-13-932073-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2fef/9424661/9bb5c0406c03/fgene-13-932073-g004.jpg

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Am J Med Genet A. 2022 Jul;188(7):2251-2257. doi: 10.1002/ajmg.a.62753. Epub 2022 Apr 7.
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