Figure 6.

SPECC1L variants in patients with non-syndromic orofacial clefting. (A) Schematic representation of SPECC1L protein showing positions of the eight coiled-coil domains (CCD; gray), calponin homology domain (CHD; black), as well as the heterozygous mutations identified in patients with non-syndromic cleft lip/palate (A86T, M91I, T299A, R546Q). Also shown are the previously identified mutations found in a patient with Oblique Facial Clefts [Saadi et al., (33); asterisk], two multigenerational families with autosomal dominant Opitz G/BBB syndrome [Kruszka et al. (36); gray arrowheads], patients with Teebi hypertelorism syndrome [Bhoj et al. (35); black arrowheads], and the additional syndromic patients identified in [Bhoj et al., (34); black arrows]. (B) Chart describing the source of the patient samples that were sequenced this analysis including the patient population, the incidence of each variant within that population, Polyphen2 and SIFT substitution predictions, and occurrence in ExAC, gnomAD and TogoVar databases (49,50,63,64).