Table 3

KIF gene-related structural congenital anomalies recurrently described in prenatal phenotypes

Structural congenital anomalyKinesin 1Kinesin 3Kinesin 4Kinesin 5Kinesin 7Kinesin 11Kinesin 12Kinesin 13
KIF5C KIF1A KIF14 KIF16B KIF7 KIF4A KIF11 KIF10 KIF26B KIF12 KIF15 KIF2A
CNS anomaliesMicrocephaly++++++++
Lissencephaly+++++
Thinned CC+++
Agenesis of CC+++
Arhinencephaly++
Cerebral hypoplasia+
Cerebral atrophy++
Cerebellar hypoplasia+++
Cerebellar atrophy+
Brainstem hypoplasia+
Molar tooth sign+
Macrocephaly/hydrocephalus++
LimbsHand anomalies_++++
Feet anomalies++++
CAKUT++
Genital tract anomalies++
IUGR++++++
  • ’+’ indicates that the anomaly is described in the literature at least in one case, while ‘−‘ indicates that an anomaly was never reported in association with a variant in the specific KIF gene to date. Clinical case descriptions and the respective references are appended in online supplementary material, table 3.

  • CAKUT, congenital anomalies of the kidney and urinary tract; CC, Corpus callosum; CNS, central nervous system; IUGR, intrauterine growth restriction.