Fig. 2: Pedigrees of the 16 CFAP410 families described in this study. | npj Genomic Medicine

Fig. 2: Pedigrees of the 16 CFAP410 families described in this study.

From: Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration

Fig. 2

For each family (1–16), the specific IRD phenotype diagnosed is mentioned above each pedigree (CD cone dystrophy, CRD cone-rod dystrophy, RCD rod-cone dystrophy, eoRD early-onset retinal dystrophy). Mildly syndromic families 14 and 16 are indicated with a hashtag (#). Affected male and female subjects are represented with black squares or circles, respectively. Probands are indicated by a black arrow. Novel variants are indicated in bold. First cousin marriage is indicated by a double-line. All presented variants refer to the CFAP410 transcript NM_004928.3. Bi-allelic inheritance was confirmed by familial segregation analysis (families 5 and 10), by ruling out deletion events in CFAP410 bioinformatically (families 1, 2, 6, 9, 11, 12, 13, 14, 15, 16), by analysis of NGS pair-end reads (family 8), and by cloning and by using the gnomAD v2 Variant Co-Occurrence tool (families 4 and 7). In family 3 we could not confirm bi-allelic inheritance, thus variants are indicated as [V(;)V].

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