Fig. 1. Pathogenic SMC1A variant in a CdLS family. (A) Pedigree of the family, with four related cases of CdLS. The arrow indicates the index patient. A black or gray symbol indicates clinically affected family members (gray, mildly affected). (B) Integrative Genomics Viewer snapshot of the novel SMC1A pathogenic variant (NM_006306.3:c.3178G>A, p.Glu1060Lys) identified by exome sequencing (arrow). (C) Sequence analysis of the SMC1A gene. Chromatograms show the hemizygous nonsynonymous variant (c.3178G>A; p.Glu1060Lys) of the SMC1A gene in the proband (III:1), the heterozygous variant in individuals I:2, II:4, and III:2 (II:4 and III:2 are very mildly affected), and the normal sequence in unaffected subjects I:1 and II:3 (arrow).
