Related Experiment Video
Updated: Aug 20, 2025
Digital Handwriting Analysis of Characters in Chinese Patients with Mild Cognitive Impairment
Published on: March 11, 2021
Progressive hemifacial atrophy in a Chinese patient: A case report
Rongrong Li1, Haiyan Yu2, Xizi Wang1
1Department of Joint Laboratory for Translational Medicine Research, Liaocheng People's Hospital, Liaocheng, China.
Background:
Progressive hemifacial atrophy (PHA) is a rare and progressive condition of unknown etiology that is characterized by chronic progressive atrophy of the skin, subcutaneous tissue, muscle, and bone on 1 side of the face. However, its precise pathogenesis remains poorly understood.
Case Presentation:
Here, we report a case of PHA, which manifested as left-sided facial atrophy. Whole-exome sequencing of peripheral blood samples from the patient and his parents, together with bioinformatics analyses, led to the identification of mutations in ARHGAP4 and CFAP47.
Conclusion:
This report is the first to describe ARHGAP4 and CFAP47 mutations in a patient with PHA. These mutations may be related to the occurrence of hemifacial atrophy, although further studies are needed to clarify the role of ARHGAP4 and CFAP47 in the context of PHA pathogenesis.
More Related Videos
05:54Real-Time Dynamic Navigation System for the Precise Quad-Zygomatic Implant Placement in a Patient with a Severely Atrophic Maxilla
Published on: October 18, 2021
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022