Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

Figure 1

Segregation of the identified mutations. (a) Pedigree of the family, (b) sequence chromatogram of the homozygous variant c.1509G>C in PRSS56 (NM_001195129.2), and (c) sequence chromatogram of the homozygous variant c.863+389C>T in CTDP1 (NM_004715.4). CCFDN, congenital cataracts, facial dysmorphism, and neuropathy syndrome; M, mutation; NNO, nanophthalmos; WT, wild type.