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. Author manuscript; available in PMC: 2009 Oct 15.
Published in final edited form as: Am J Med Genet A. 2008 Oct 15;146A(20):2644–2650. doi: 10.1002/ajmg.a.32472

Figure 3.

Figure 3

SIZN1 mutation c.1031C>T(p.T344I) in family K8923 (A). Partial pedigree of family K8923 with XLMR chromosome marker analysis and X inactivation (Xi) data are indicated. (B) Automated sequence chromatograms of SIZN1 exon 4 from a control male and from two affected males and a carrier female in family K8923 showing a “C” to “T” alteration at nucleotide 1031 (c.1031C→T). Carrier mother is heterozygous for the alteration. Mutant alleles are boxed. This alteration is predicted to cause a p.T344I missense change in SIZN1. (C) Sequence comparison across species shows the Thr 344 residue is highly conserved amino acid. (D) The Sizn1 related enhancement in BMP signaling is suppressed by the T344I mutant of Sizn1 (30%) in SBEx4 reporter assay. Error bar are standard deviation (SD) in luciferase assay.