Figure 9. Tongue in OFD1 patient.

(A, B) Tongue in OFD1 patient (G138S missense mutation). Arrowheads and arrows indicating protruded tissue and normal tongue, respectively. (C–L, O–R) Sections showing histological images (C–H, O, P) and immunohistochemistry of Prdm16 (I, J), UCP1 (K, L), and KRT1-5 (Q, R) on control human tongue (C, D, O, Q) and OFD1 patient tongue (E–H, J, L, P, R). (M, N) Quantitative PCR (q-PCR) on mRNA isolated from ectopic sparse tissue from OFD1 patient tongue, cultured human skeletal muscle myoblasts (CHM), and cultured human white adipocyte (CHWA).

Figure 9—figure supplement 1. Quantitative PCR (q-PCR) analysis on OFD1 patient tongue.

q-PCR of CIDEA (A), PGC1a (B), PRDM16 (C) and CIDEA (D) on mRNA isolated from ectopic sparse tissue from OFD1 patient tongue, cultured human myoblasts (CHM), and cultured human white adipocytes (CHWA).