Pedigrees of the Families Affected by HS, Illustration of Clinical Characteristics of Individual F5-II:2, and Air-Conduction Audiograms of HS Individuals
(A) Affected individuals are shaded. Arrows indicate individuals in whom WES was performed and blood and/or fibroblasts were analyzed. For family 1, additional exomes were sequenced for members I:1, II:1, and II:3. DNA for cosegregation analysis was available from family members with an asterisk.
(B) An orthopantogram of individual F5-II:2 shows severe amelogenesis imperfecta.
(C) A retinal photograph taken when individual F5-II:2 was 20 years old shows marked mottling of the retinal pigment epithelium.
(D) A fingernail of individual F5-II:2 shows evidence of onychoschizia and Beau’s lines.
(E) An air-conduction audiogram of individual F5-II:2.
(F) An air-conduction audiogram of individual F5-II:3.