PTEN and intervertebral disk degenerative disorder: Analysis of a de novo missense variant in PTEN (NM_000314:c.959T>C:p.[Leu320Ser]) in a patient with ASD, profound IDD, and macrocephaly revealed an increased distance between residues PTEN L320S and F273 in the tertiary structure of L320S compared with the wild type (Fig. 3a–c).