IMPACT OF FGD1 MONOZYGOUS MUTATION ON PHYSICAL DEVELOPMENT AND ATHLETIC PERFORMANCE: A CLINICAL ANALYSIS

Abstract

Objective: This study investigates the impact of an FGD1 gene mutation associated with Aarskog-Scott syndrome on physical development and its potential influence on athletic performance, providing insights into its pathogenesis and implications for management in sports medicine. Methods: Aarskog-Scott syndrome, a genetic condition often marked by short stature and distinct facial features, was studied in a patient who presented with slowed growth over an eight-month period. Comprehensive physical examinations, laboratory tests, and genetic analyses were conducted, including whole-exon sequencing to identify any mutations in the FGD1 gene. Sanger sequencing was used to compare genomic variations between the patient and his parents. The patient's response to growth hormone treatment, specifically height progression, was closely monitored. Results: Whole-exon sequencing revealed a hemizygous mutation (P. Arg519His) in the FGD1 gene. Sanger sequencing confirmed the absence of this mutation in the father and its presence in a heterozygous state in the mother. This mutation was classified as pathogenic according to the American Society of Medical Genetics and Genomics standards. Post-treatment observations showed significant height increase and satisfactory developmental progress following growth hormone therapy. Conclusion: The hemizygous mutation P. Arg519His in the FGD1 gene identified in this patient with Aarskog-Scott syndrome underscores a genetic basis for short stature and developmental delays, which are critical considerations in sports medicine. Understanding such genetic influences is essential for diagnosing and tailoring treatment strategies for athletes who might exhibit similar phenotypic constraints, thus assisting in optimizing their developmental outcomes and athletic potential. The findings contribute to the genetic mutation database and offer valuable references for diagnosing similar cases in athletic populations.