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

Figure 1 Clinical photographs of the proband reported in this case. A: A rounded face, wide shoulders, a barrel chest, a ‘stocky’ build, and truncal obesity; B: A remarkable acanthosis nigricans in the neck.

Figure 2 Pre-treatment imaging examinations of the proband. A: Scoliosis; B: Thyroid nodules (TI-RADS2); C: Right pelvic cyst (7.8 cm × 8.2 cm × 7.5 cm); D: Enlarged liver; E: Enlarged spleen.

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.

Figure 4 Predicted truncated ALMS1 caused by the frameshift mutation (upper panel) and nonsense mutation (lower panel) identified in this proband.

Figure 5 Bone age of the proband, at 2 years post-treatment.

Figure 6 Follow-up imaging examinations of the proband, at 2 years post-treatment. A: Disappearance of the right ovarian cyst; B: Thyroid nodules (TI-RADS 2-3); C: Gallbladder polyps.