Intrauterine growth restriction and genetic determinants - existing findings, problems, and further direction

Table 5 Gene and fetal growth

Gene	Gene mutation/expression	Phneotypic effects/complications
CDK19	Chromosome breakpoints in 6p12.1 and 6q21	Microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation[9]
NFIA	Chromosome 1p32-p31 deletion syndrome	Ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction in the third trimester[44]
IGF1R	Novel c.420del mutation in exon 2 of the IGF1R gene	Reduced IGF1R expression and represents haploinsufficiency of the IGF1R gene. IUGR and neonatal growth retardation[10]
hPGH, IGF-I, IGFBP-1	Decreased expression	Decreased expression is associated with IUGR[27]
c-fos	Decreased expression	Fetal alcohol syndrome[45]
11b-HSD2	Glucocorticoid metabolism	Under expression cause IUGR, small placenta[55]
GSTP1	Glutathione transferase enzymes pathway	Fetal growth and neonatal growth[56]
ZMPSTE24	Fetal growth	IUGR, dermopathy, neonatal death[43]
Ascl2	Placenta development	Three layers malformation, IUGR[44]
TFRC	Transferrin receptor function	IUGR[13]
DIO3	Type 3 deiodinase	Highly expressed in placenta and fetus. IUGR and hypothyroidism[47]
DLK1	Growth promoter	Expressed in placental villi. Methylation defects associated with IUGR[16]
HYMAI	Non-coding RNA	Transient neonatal diabetes and IUGR[57]
IGF2	Growth Factor	Placental and fetal growth restriction[58]
KCNQ1OT1	Non-coding RNA	Control placental Kcnq1 domain. Involved in Beckwith-Wiedemann syndrome[59]
MAGEL2/NDNL1	Similarity to NDN	Neonatal growth retardation, alter metabolism[60]
MEST	Neuronal differentiation	Fetal growth restriction, smaller placentas[52]
PEG10	Retrotransposon-derivedgene	Severe growth retardation, absence of spongiotrophoblast layer, embryonic lethality[61]
PEG3	Inhibits WNT-signalling	Placental and fetal growth restriction and abnormal maternal behavior[62]
PLAGL1 Zac1	Tumor suppressor	Skeletal defects, neonatal lethality, IUGR, and disrupted transactivation of Igf2[63]
SFRP2	WNT signaling	Reduction in vitro of extra villous trophoblast invasion[64]
HBII-85/PWScr	C/D Box small RNA	Implicated in Prader Willi, Postnatal growth retardation[65]

IUGR: Intrauterine growth restriction.