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Table 1 SHANK3 point mutations in 17 individuals described in this study

From: Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

ID Coding DNA changea Protein changeb Genomic change (hg19) Location Effect Inheritance Variant classification [25]
S1c c.1527G>A p.Trp509* chr22:g.51137146G>A Exon 12 Nonsense De novo Pathogenic
S2 c.2471delC p.Pro824Argfs*69 chr22:g.51158732delC Exon 21 Frameshift De novo Pathogenic
S3d c.2499delG p.Pro834Argfs*59 chr22:g.51158760delG Exon 21 Frameshift De novo Pathogenic
S4 c.2946_2949delCCGC p.Arg983Serfs*94 chr22:g.51159207_51159210delCCGC Exon 21 Frameshift De novo Pathogenic
S5 c.3095_3107delTGGGGGCCATCGA p.Val1032Glyfs*42 chr22:g.51159356_51159368delTGGGGGCCATCGA Exon 21 Frameshift De novo Pathogenic
S6 c.3424_3425delCT p.Leu1142Valfs*153 chr22:g.51159685_51159686delCT Exon 21 Frameshift De novo Pathogenic
S7 c.3679dupG p.Ala1227Glyfs*69 chr22:g.51159940dupG Exon 21 Frameshift Non-paternal Pathogenic
S8 c.3679dupG p.Ala1227Glyfs*69 chr22:g.51159940dupG Exon 21 Frameshift De novo Pathogenic
B1e c.3679dupG p.Ala1227Glyfs*69 chr22:g.51159940dupG Exon 21 Frameshift De novo Pathogenic
S9 c.3764_3776delGGGCCCAGCCCCC p.Arg1255Leufs*25 chr22:g.51160025_51160037delGGGCCCAGCCCCC Exon 21 Frameshift De novo Pathogenic
B2, B3e,f c.4065_4066delTG p.Val1357Glyfs*4 chr22:g.51160326_51160327delTG Exon 21 Frameshift De novo Pathogenic
S10 c.4229delC p.Pro1410Hisfs*18 chr22:g.51160490delC Exon 21 Frameshift De novo Pathogenic
S11 c.4577_4578delCC p.Ala1526Glufs*16 chr22:g.51160838_51160839delCC Exon 22 Frameshift De novo Pathogenic
S12 c.4906_4921dupTCCCCCTCGCCGTCGC p.Pro1641Leufs*58 chr22:g.51169450_51169465dupTCCCCCTCGCCGTCGC Exon 22 Frameshift De novo Pathogenic
S13g c.5008A>T p.Lys1670* chr22:g.51169552A>T Exon 22 Nonsense Non-maternal Likely pathogenic
c.3872C>T p.Ser1291Leu chr22:g.51160133C>T Exon 21 Missense Non-maternal Likely benign
S14 c.5014G>T p.Asp1672Tyr chr22:g.51169558G>T Exon 22 Missense De novo Likely pathogenic
  1. aNM_033517.1
  2. bNP_277052.1 (Q9BYB0-1)
  3. cS1 also has a de novo pathogenic 17q12 microduplication [62]. Reported previously [2, 14, 26]
  4. dReported previously [2, 26]
  5. eReported previously [24]
  6. fMonozygotic twins
  7. gReported previously [26]. This individual has two variants in SHANK3; the missense variant is likely benign and is not shown in Fig. 1a