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. 2015 Oct 7;24(6):889–894. doi: 10.1038/ejhg.2015.209

Figure 1.

Figure 1

Family tree, filtering, and variant characteristics. (a) Pedigree of the family. The first pregnancy in the family was a still birth 3 weeks before delivery possibly due to gestational diabetes. No malformation was detected. P1 and P2 carry the homozygous variant. Both have mild intellectual disability and macrocephaly that, especially in P2, is reminiscent of Bannayan–Riley–Ruvalcaba syndrome. (b) Filtering. We followed several filtering strategies based on different in silico parameters and inheritance mode. All filtering strategies suggested one variant in PTEN. (c) PTEN gene structure. Protein domain structure showing phosphatase domain as well as C2 domain with a p.Leu182Ser alteration. Below genomic structure of PTEN (NM_000314.4) and evolutionary conservation of the Leu182 residue.