Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature

Figure 3 Pedigree and mutation analysis of the family. A: Alignment of exome sequences showing a frameshift mutation of 4-base pair deletion (upper panel) and a nonsense mutation (lower panel) in ALMS1; B: The proband (II-1) carried compound heterozygous mutations: c.2296_2299del4 inherited from her father (I-1) and c.11460C>A from her mother (I-2). The proband’s younger sister (II-2) also carried c.2296_2299del4 from her father. WT: Wild type.