Figure 1.

Pedigree, Linkage Analysis, and Clinicopathological Features of This Autosomal-Dominant Disorder Associated with a Missense Mutation in ATR

(A) The family pedigree. Squares denote male family members, and circles denote female family members. A 17.3 Mb critical region is defined by recombination events in individual IV:6 for rs712984 and in individuals IV:3 and IV:12 for SNP rs958465.

(B, C, and D) Carriers are a 6-year-old female (B), a 35-year-old female (C), and a 56-year-old male (D) with telangiectases on the face as well as thin outer eyebrows.

(E) A 25-year old female carrier with the additional feature of a papillomatous tumor in the upper-pharynx (tonsillar) region with histological features of squamous cell carcinoma.

(F and G) Histopathological feature of squamous cell carcinoma in the upper pharynx (tonsillar) region of affected individual IV-12. The epidermis shows full-thickness dysplasia with hyperkeratosis and parakeratosis (hematoxylin and eosin stain; original magnification is ×100) (F). Nests of carcinoma cells are infiltrating into the submucosal tissue (hematoxylin and eosin stain; original magnification is ×200) (G).

Additional pedigree data are detailed in Table S1 and S2.