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. 2018 Jul 2;13(7):e0200005. doi: 10.1371/journal.pone.0200005

Fig 5. Identification of TSPOAP1 variants in a family with RE- FECD.

Fig 5

(A) Pedigree of RE- FECD family. Patient 52 (91 years old) and patient 59 (64 year old) had modified Krachmer scores of 6 in both eyes and TCF4 trinucleotide repeat sizes of 18, 24 and 24, 31 respectively. Patient 53 (66 years old) and patient 62 (52 years old) had modified Krachmer scores of 0 in both eyes and TCF4 trinucleotide repeat sizes of 24, 31 and 18, 32 respectively. Outside of the FECD diagnosis, there were no evident medical conditions or syndromic diseases that were common within the pedigree other than solitary skin cancers in 2 of the 4 family members. (B) Sanger sequencing traces of DNA from the vicinity of the R1058H variant are shown. Both affected family members (I-1 and II-2) are confirmed to be heterozygous for the R1058H variant. (C) Schematic diagram showing the filtering strategy used to identify variants in exome sequencing of 4 family members. The number of variants remaining after each filtering step is shown in the boxes.