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

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

cDNA variant	Amino acid variant	Mutation type	Ocular		Systemic				Other	Reference
cDNA variant	Amino acid variant	Mutation type	ASD	Glaucoma	Facial/Dental	Cardiac	Hearing	Umbilical	Other	Reference
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]

ISSN: 1755-8794