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Supp. Figure S1. Distribution of missense (dark blue, N = 42), truncating (light blue, N = 283) and splice alterations (normal blue, N = 148) (A) across the NF1 gene and (B) relative to the size of the exons. NF1 large deletions (N = 24), deletion/duplication of one or more exons (N = 22), creations of new exon (N = 13), inframe deletions/insertions (N = 6), complex situations with two transcripts (N = 14) or multiple mutations (N = 2), and mRNA instability (N = 2) have been excluded.

Supp. Figure S2. Pedigrees of five French NF1 families with no NF1 mutation identified and no NF1 locus exclusion using NF1 microsatellite haplotyping. Squares and circles indicate males and females, respectively. Open symbols indicate unaffected individuals, filled symbols indicate affected individuals, arrows indicate propositus, and symbols with a slash indicate deceased family members. Haplotypes of four NF1 intragenic polymorphic microsatellites (D17S1307, D17S2163, D17S1166, and IVS38-GT53.0) and four NF1 extragenic polymorphic microsatellites (D17S841, D17S635, D17S1800, and D17S798) were studied for segregation analysis.

Supp. Table S1. Real-time PCR-based NF1 gene dosage primers

Supp. Table S2. Primers for the eight fragments cDNA amplification and Sanger sequencing

Supp. Table S3. Primers for NF1 sequencing at DNA level

Supp. Table S4. Functional consequence predictions of missense and inframe NF1 variants identified in the French cohort

Supp. Table S5. Summary of the 363 distinct NF1 point mutations identified in the French cohort NS: nonsense mutation; MS: missense, FS: insertion, deletion or ins/del frameshift, IF: insertion, deletion or ins/del in frame, SFS: splice frameshift, SIF: splice in frame, C: complex mutation leading to two different transcripts or the absence of the corresponding mutated transcript, VUS: Variants of Unknown Significance. ND: not described.

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