Family pedigrees and details of PTPMT1 variants. (A) Pedigrees of the three unrelated families showing consanguinity (double horizontal lines). Affected subjects (Subjects S1–S6) are represented by filled circles for females and filled squares for males. Arrow indicates proband (Subject S5) of Family 3. (B) Chromatograms from Sanger sequencing of PTPMT1 (NM_175732.3) genotypes for probands, parents and siblings of Families 1–3.