Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate
Table 2
Point mutations of ARHGAP29 causing cleft in patients.
Mutation
Inheritance
Phenotypes
PMID
c.62_63delCT, p.S21YfsX20
AD
NSCLP
23008150
c.76A > G, p.T26A
AD
NSCL
23008150
c.94A > T, p.K32X
AD
NSCLP
25512736
c.137A > G, p.K46R
AD
NSCLP
23008150
c.698-1G > C
IP
NSCL/P
27350171
c.976A > T, p.K326X
AD
NSCLP
23008150
c.1475C > A, p.S492X
IP
NSCL/P
27350171
c.1576+1G > A
IP
NSCL/P
27350171
c.1654 T > C, p.S552P
AD
CP
28029220
c.1865C > T, p.T622M
AD
NSCLP
23008150
c.1939C > T, p.R647X
AD
CL/P
25704602
c.2109+1G > A
AD
NSCL/P
27350171
c.2367G > A, p.W789X
AD
CL/P
25704602
c.2494G > A, p.A832T
AD
NSCLP
23008150
c.2533A > G, p.I845V
AD
NSCLP
23008150
c.2615C > T, p.A872V
IP
NSCLP
c.2738C > A, p.S913L
AD
CL
25081408
c.2864G > A, p.R955H
AD
NSCLP
23008150
c.3118G > T, p.G1040X
AD
CL/P
25704602
c.3425G > A, p.R1142Q
AD
NSCLP
23008150
Red word indicates the case in the present study. AD: autosomal dominant; IP: confirmed incomplete penetrance; NSCLP: nonsyndromic cleft lip and palate; NSCL: nonsyndromic cleft lip; NSCL/P: nonsyndromic cleft lip with or without cleft palate; CP: cleft palate; CL/P: cleft lip with or without cleft palate; CL: cleft lip.
