FGD1 Variant Associated With Aarskog-Scott Syndrome.

ABSTRACT:

Background

Aarskog-Scott syndrome, a rare X-linked genetic disorder, is identified by combined clinical manifestations of short stature, facial, skeletal, and genital anomalies. Annually, two or three new cases are diagnosed with Aarskog-Scott syndrome, which is associated with FGD1 variants. However, there is no specific treatment for Aarskog-Scott syndrome due to its unclear mechanism.

Methods

Clinical data were collected when the patient first visited the hospital. Trio whole-exome sequencing and Sanger sequencing were performed for the genetic cause of disease. To evaluate the pathogenicity of the variants in vitro, stable cell lines were constructed using lentivirus infection in 143B cell. Furthermore, Western blot was used to verify the expression of sign

SUBMITTER: Zhu Y 

PROVIDER: S-EPMC9329920 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature