Fig. 2
From: Novel MSX1 variants identified in families with nonsyndromic oligodontia
Sequencing chromatograms of five families and conservation analysis of the MSX1 variants. a Pedigree of Family 1 with nonsyndromic oligodontia. Available DNA sequencing chromatogram showing a heterozygous MSX1 variant of c.364G>T (p.G122*) in proband #1 (III-1) and her mother (II-2). b Pedigree of Family 2 with nonsyndromic oligodontia. Available DNA sequencing chromatogram showing a heterozygous MSX1 variant of c.277delG (p.A93Rfs*67) in proband #2 (II-2). c Pedigree of Family 3 with nonsyndromic oligodontia. Available DNA sequencing chromatogram showing a heterozygous MSX1 variant of c.809C>T (p.S270L) in proband #3 (II-1). d Pedigree of Family 4 with nonsyndromic oligodontia. Available DNA sequencing chromatogram showing a heterozygous MSX1 variant of c.662A>C (p.Q221P) in proband #4 (III-1) and his mother (II-2). e Pedigree of Family 5 with nonsyndromic oligodontia. Available DNA sequencing chromatogram showing a heterozygous MSX1 variant of c.670C>T (p.R224C) in proband #5 (III-1), his mother (II-3), and his grandfather (I-3). f Schematic diagram of the MSX1 protein structure showing the localization of five novel variants identified in these TA pedigrees. g Schematic diagram of the MSX1 gene. h Alignment conservation analysis of the MSX1 amino acid sequences among different species. Black arrows indicate the proband in each family. Black squares and circles represent TA patients. Grey squares and circles represent individuals with TA, but their DNA samples were not available. Squares and circles with a slash represent individuals who have passed away. A circle with a question mark represents an individual who is too young to be confirmed
