Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

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Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome Ilse Wieland, Sibylle Jakubiczka, Petra Muschke, Monika Cohen, Hannelore Thiele, Klaus L. Gerlach, Ralf H. Adams, Peter Wieacker The American Journal of Human Genetics Volume 74, Issue 6, Pages 1209-1215 (June 2004) DOI: 10.1086/421532 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Orbital asymmetry in a patient with CFNS The American Journal of Human Genetics 2004 74, 1209-1215DOI: (10.1086/421532) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Family 1. A, Pedigree of family 1 with CFNS. B, Deletion of the EFNB1 gene in family 1, detected by Southern blot analysis using exon 2 of the EFNB1 gene as a probe. C, PCR analysis of exons 1–5 of EFNB1. Lane numbers refer to family members depicted in the pedigree. The American Journal of Human Genetics 2004 74, 1209-1215DOI: (10.1086/421532) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Family 2. A, Part of the pedigree of family 2. B, Missense mutation 1023C→T in exon 2 of EFNB1 in the hemizygous obligate carrier male (III2) and in an affected heterozygous female. C, PCR analysis and RsaI restriction enzyme cleavage of exon 2 of EFNB1. Lane numbers refer to family members depicted in the pedigree, and the fragments carrying the mutation are indicated by an arrow. The American Journal of Human Genetics 2004 74, 1209-1215DOI: (10.1086/421532) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 4 Family 3. A, Part of the pedigree of family 3. B, Missense mutation 862C→T in the hemizygous affected male (I1) and in a heterozygous affected female (III2) of pedigree 3. C, PCR-based detection of the 862C→T mutation in family 3. Lane numbers refer to family members depicted in the pedigree, and the fragments carrying the mutation are indicated by an arrow. The American Journal of Human Genetics 2004 74, 1209-1215DOI: (10.1086/421532) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 5 EFNB1 protein and ephrin-B conservation. A, Position of EFNB1 missense mutations that cause CFNS. The mutations are shown on the primary sequence of EFNB1 protein with its signal peptide (SP), transmembrane domain (TM), and cytoplasmic domain (CY). Both missense mutations are located in the ephrin extracellular domain. Deletion Δexon 2–5 is indicated at the cDNA level. B, Evolutionary conservation of P54 and T111 in the ephrin-B class. Domains containing P54 (left column of amino acids) and T111 at the G-H loop (Himanen et al. 2001; Toth et al. 2001) (right column of amino acids) of human EFNB1-B3 and of EFNB1 protein from mouse (m), rat (r), chicken (c), frog (X), and zebrafish (Dr) are shown. The American Journal of Human Genetics 2004 74, 1209-1215DOI: (10.1086/421532) Copyright © 2004 The American Society of Human Genetics Terms and Conditions