FGD1-related Aarskog-Scott syndrome: a case report and literature review
10.3760/cma.j.cn114452-20240219-00083
- VernacularTitle:FGD1相关的Aarskog-Scott 综合征1例并文献复习
- Author:
Meiqin YU
1
;
Mingran WU
;
Jinlian SONG
Author Information
1. 青岛大学附属妇女儿童医院检验科，青岛 266034
- Keywords:
Genetic variation;
Aarskog-Scott syndrome;
FGD1 gene;
Short stature
- From:
Chinese Journal of Laboratory Medicine
2024;47(9):1098-1101
- CountryChina
- Language:Chinese
-
Abstract:
A male child aged two years and six months was admitted to the Affiliated Women and Children′s Hospital of Qingdao University in June 2023 due to wide eye distance, stubby fingers, koilosternia, cryptorchidism, and short tongue frenum. After clinical data collection, whole exome sequencing (WES) was conducted and bio-informatics analysis was performed to search for possible mutation sites on the patient. Family lineage verifications were conducted through Sanger sequencing. WES results showed that the patient carried c.2432dupT frameshift hemizygote variation of the FGD1 gene on the X chromosome (Xq11.22). Sanger sequencing confirmed that the mother was a carrier of the c.2432dupT heterozygous variant but not the father. According to the sequence interpretation guidelines of the American College of Medical Genetics and Genomics (ACMG), this variant is pathogenic (ACMG: PVS+2PP). The patient was diagnosed with Aarskog-Scott syndrome(ASS), which is a rare X-linked disorder characterized by facial, skeletal and genital anomalies. This case study has enriched the variant spectrum of the FGD1 gene and provided guidance for clinical screening and diagnosis of ASS.
