FGD1-related Aarskog –Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects

Conclusion: We reported four novel pathogenicFGD1 variations in AAS patients and confirmed the efficacy and safety of growth hormone treatment inFGD1-related AAS patients with growth hormone deficiency. Additionally, our literature review suggested the crucial role of DH domain in FGD1 function.What is Known:• Aarskog–Scott syndrome is a rare genetic disease, and the only known cause is the variant in FGD1 gene. The typical clinical manifestations of AAS include facial, skeletal, and urogenital deformities and short stature.What is New:• We reported four novel FGD1 variants and reported the treatment of growth hormone in FGD1-related AAS patients. Our genotype–phenotype correlation analysis suggested the crucial role of DH domain in FGD1 function.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research