Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

Abstract

Sanger sequencing. Detection of copy number variations (CNV) using MLPA was applied on 35 patients. Whole exome sequencing (WES) was applied on 18 patients and chromosomal microarray (CMA) was conducted for five patients with associated anomalies. This study was approved by NRC Ethics Committee. Results: Sex chromosomal abnormalities were found in 41%, while autosomal abnormalities were detected in 2.3%. Sanger sequencing identified pathogenic variants in 33.7%. MLPA identified deletions of SOX9 in two patients. The detection rate of WES reached 66.7%, while CMA analysis revealed patho-genic copy number variations in two patients. Conclusion: The study reports a large number of DSD patients from the same ethnic group with a wide cytogenetic spectrum and characteristic mutational profile with novel and rare variants. References: Mazen I, Mekkawy M, Kamel A, et al. (2021) Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. Am J Med Genet A.