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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Fig. 1

Clinical classification and NF1 pathogenic variants identified in 75 CPT patients. a. The distribution of the number of cases in different onset-age in NF1 CPT patients, non-NF1 CPT patients, NF1+ (with NF1 pathogenic variants identified) patients, and NF1 (no NF1 pathogenic variants identified) patients. b. The distribution of the number of cases in four different Crawford types classified when CPT occurred according to age stage. y: year. c. The distribution of the number of NF1+ (blue bar) and NF1 (red bar) patients in different clinical classification groups. d. The distribution of exonic functional effect of NF1 pathogenic variants in different Crawford type patients. The majority variants are stop codon (blue bar), InDel (red bar) or splicing (green bar) variants, only three are missense variants (purple bar). e. The inheritance mode distributed in 43 CPT patients (exclude 5B) identified NF1 pathogenic variants. De novo variants show in blue, and inherited variants show in purple which is consist of paternal mode (red bar) and maternal mode (green bar). f. Bar plot of the percentage of rare SNVs and InDels of the NF1 gene in NF1 and non-NF1 CPT patients compared to gnomAD database. Nonsynonymous variants in the coding region of the NF1 gene with MAF < 0.005 were calculated. gnomAD_EAS: East Asian population of gnomAD, gnomAD_all: all population. LoF: loss-of-function associated variants, including stop-gain, splicing changes, startlost, stoplost and InDels

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