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. 2018 Feb 22;102(3):487–493. doi: 10.1016/j.ajhg.2018.01.021

Figure 1.

Figure 1

Identification of Three Individuals with 46,XX DSD and Heterozygous Frameshift Mutations in NR2F2

(A) Representative Sanger sequence chromatograms of individuals 1–3 showing the positions of the frameshift mutations.

(B) Histology of the right gonad of individual 3 showing testicular tubule-like structures surrounded by stromal-like tissue (scale bar corresponds to 100 μm).

(C) Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) of individual 3.

(D) Uterus (arrow) of individual 2 observed by MRI.

(E) Pelvic radiography of individual 3 showing the vagina (V) and a short urogenital sinus (UrS).

(F) Schematic representation of COUP-TF2 showing the main functional domains and the position and downstream consequences of the three frameshift mutations. The first zinc finger motif is highlighted in green in the sequence alignment. The transcript ID is GenBank: NM_021005.3.