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Table 3 Representative clinical manifestations attributed to the FOXC1 mutations with ARS

From: A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review

cDNA variant Amino acid variant Mutation type Ocular Systemic Other Reference
ASD Glaucoma Facial/Dental Cardiac Hearing Umbilical
c.246C>A p.S82R Missense + + + + Sublingual cyst The present study
c.335T>C p.Phe112Ser Missense + + + + NR NR Peters anomaly [12]
c.454T>C p.Trp152Arg Missense + + + NR + NR NR [9]
c.358C>T p.Q120X Nonsense + + + + NR + Peters anomaly, urethral malformations [16]
c.380T>G p.R127L Missense + + + NR NR NR [17]
c.508C>T p.Arg170Trp Missense + + + + + NA [18]
c.161T>A p.M161K Missense + + + NR NR NR NR [19]
c.192 C>G p.Tyr64Ter Missense + + + NR Growth retardation [20]
c.4C>T p.Q2X Missense + + NR NR + NR NR [21]
c.272T>C p.Ile9lThr Missense + + NR NR NR NR NR [14]
c.317delA p.Gln106Argfs*75 Nonsense + + [11]
c.477C>G p.Tyr159* Nonsense + + NR NR NR NR Leukoencephalopathy, Growth retardation [22]
c.407_409delGTC p.V137del Nonsense + + + [23]
c.477_478delCA p.(Y159 ) Frameshift + + NR + NR NR [15]
c.210_210delG p.Q70Hfs*8 Deletion + + NR + NR NR NR [17]
c.1494delG p.G499Afs*20 Deletion + + + NR NR NR [3]
c.92_100del p.Ala31_Ala33del Deletion + + NR NR NR [9]
  1. ASD, anterior segment dysplasia; +, positive; −, negative; NR, not reported