Figure 1
From: Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
A novel 3-bp deletion in exon 6 of NR5A1 (exons are numbered as in NG_008176.1) was identified in a multigeneration Indonesian family to be associated with 46,XY DSD and 46,XX POI. (a) Pedigree of the family, showing all 15 individuals who were available for this study. Squares and circles represent males and females, respectively. Open symbols indicate unaffected individuals, and filled squares and circles highlight affected individuals.The 46,XY gonadal dysgenesis (46,XY GD) patients were assigned male or female symbols according to their phenotype and assigned gender. The 46,XX POI patients are labelled with 46,XX POI below the symbol. The pedigree has been reduced to the individuals who were available for the study for simplicity and for the sake of confidentiality. (b) Schematic view of the NR5A1 genomic region on chr9:g.127 243 515–127 269 699 (GRCh37/hg19) including the exon–intron structure (NR5A1 is located on the reverse strand, but shown here in its 5′–3′ orientation from left to right). Exon 6 is highlighted in red. (c) Sanger sequencing of an unaffected and affected individual, showing the wild-type exon 6 sequence (unaffected) and the heterozygous, 3-bp deletion (c.1114_1116del) in one affected individual.
