Fig. 1 | Genetics in Medicine

Fig. 1

From: Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Fig. 1

Clinical features of hereditary congenital facial paresis (HCFP) affected individuals and pedigree of families in whom MEPE variants were identified DNA from individuals with underlined numbers. a Pedigree of the HCFP family showing that variant M1 [c.1273delC; p.(Gln425Lysfs*38)] fully segregates with the facial paresis phenotype. The affected status of individual III:16 is based on reporting by family members. b Clinical features of the affected individuals carrying the variants in MEPE. Affected individuals III:7, III:15, IV:1, and IV:2 show bilateral facial paresis; they are not able to smile. c Pedigrees of the families with otosclerosis (OTOS1 and OTOS2) in which the variant M2 [c.199_202delGAAA; p.(Lys70Ilefs*26)] was identified.

Back to article page