Fig. 2.

The variant in ATRX in Patient 3. (a) Pedigree of Patient 3. Arrow and P indicate the proband; star indicates members who underwent Sanger sequencing. (b) ATRX sequence result of Patient 3 and his parents. A hemizygous variant c.6257 T > C; p.(Leu2086Ser) in ATRX (NM_000489.3) was identified in the proband (IV:1). His mother (III:3) was in heterozygous state for the variant and his father (III:2) was wild type at the same site