Skip to main content

Table 1 Genetic and demographic information for PMS probands and unaffected siblings

From: Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

 PMS probandUnaffected siblingGenetic and genomic characterization of SHANK3 mutation
Family IDAge
SexMutation typeMinimal deletion sizeChromosomal locationGenes within deletion on chr22
15F3FFrameshiftN/Achr22:51160837-51160839 GCC/GSHANK3
213F6FDeletion42 kbchr22:51,132,839-51,175,792SHANK3
325F19MDeletion43 kbchr22:51,132,839-51,176,002SHANK3
43M1FDeletion62 kbchr22:51,121,360-51,183,840SHANK3, ACR
53M6FDeletion85 kbchr22:51,086,931-51,172,228SHANK3, ACR, RABL2B
64F6MDeletion4.98 Mbchr22:46316673-51,304,566109 genes (see Table S1)
79F12MDeletion6.9 Mbchr22:44321641-51,304,566*167 genes (see Table S1)
  1. hiPSC-NPCs could not be generated for unaffected sibling from family ID 2. Family 6 is of Asian ancestry and the remaining families are of European ancestry