PTEN and PTEN hamartoma tumor syndrome: Finally, in case #4, which was affected by PTEN hamartoma tumor syndrome (PHTS) combined with multiple brain CCMs, we detected the c.959dup p.(Leu320PhefsTer5) frameshift variant in exon 8 of PTEN (NM_000314.8; LRG_311) with a known pathogenic clinical significance for PHTS (ClinVar ID: RCV000801646.1).