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. 2012 Apr 21;18(15):1840–1844. doi: 10.3748/wjg.v18.i15.1840

Figure 2.

Figure 2

Pedigree and genetic analysis of an hereditary hemorrhagic telangiectasia family. A: Pedigree of a family with genetic mutations and/or symptoms of hereditary hemorrhagic telangiectasia (HHT) and intracranial hemorrhage (ICH). The proband is indicated by an arrow. A divided symbol represents the individual with ICH. Deceased individuals are indicated by a slash; B: Genetic studies of unaffected and affected family members. The affected member had a heterozygous activin receptor-like kinase 1 (ALK1) mutation (c.199C > T; p.Arg67Trp). The amino acid translation is shown above each codon. The mutation was found in exon 3, indicated by an asterisk; 3. Protein domains of ALK1 are indicated under the exons: extracellular domain (ECD), transmembrane domain (TM), and kinase domain (KD).