Skip to main content
. 2016 Apr 6;24(10):1430–1435. doi: 10.1038/ejhg.2016.29

Figure 2.

Figure 2

Ectodermal dysplasia and KREMEN1 p.F209S in four families. (a) Co-segregation of homozygosity for KREMEN1 p.F209S with ectodermal dysplasia in Palestinian families SO1, SO2, SO3, and SO4. Pedigrees indicate individuals with ectodermal dysplasia in black symbols, with the ages at exam (in years) for all individuals indicated under their symbols. Probands are indicated by arrows. Genotypes for KREMEN1 p.F209S are N for the reference allele phenylalanine and V for the variant allele serine at residue 209. (b) Sequence chromatograms of KREMEN1 c.626 T>C (NM_032045.4) for SO1-IV-2 (homozygous for the variant allele), for SO1-III-8 (heterozygous), and for SO1-III-1 (homozygous for the reference allele). (c) Diagram of the human KREMEN1 protein illustrating the functional extracellular Kringle, WSC, and CUB domains; the transmembrane TM domain, and the intracellular IC domain. The position of KREMEN1 p.F209S is indicated with an arrow. Aligned sequences of KREMEN1 orthologs surrounding F209 in the human protein are illustrated under the diagram.