Table 2

Summary of phenotypes and genotypes of KIF14 9 26 30 31

FamilyIndividuals affected (n)ConsanguinityCNS phenotypeKidney phenotypePrenatal lethal wGA KIF14 sequence variantFunctional domain
Filges et al 37 2Microcephaly, agenesis of occipital lobes, CC and vermisBRA, RHD21+4; 18+5c.1750_1751del, c.1780A>T
p.Glu584Ilefs*16, p.Arg594*
Motor domain
Moawia et al 10
Family 1
3+Microcephaly with simplified gyral patternc.263A>T
p.Leu88*/ p.Gly58 Leu181del
PRC1 binding
Moawia et al 10
Family 2
2+Microcephaly with simplified gyral patternc.2480_2482delTTG
p.Val827del
FHA domain
Moawia et al Family 33+Microcephalyc.4071G>A
p.Gln1357=/ p.Leu1296Trpfs*46
C-terminal tail
Moawia et al 10
Family 4
2Microcephaly, lissencephaly CC agenesisSmall kidneys, increased echogenicity24c.2545C>G, c.3662G>T
p.His849Asp, p.Gly1221Val/ p.Gly1221 Lys1296delinsVal
FHA domain C-terminal tail
Makrythanasis et al 41
Family 1
2+Intellectual disabilityc.2522C>T
p.Ser841Phe
FHA domain
Makrythanasis et al 41
Family 2
2+Microcephaly, optic atrophy, ASDc.246delT
p.Asn83Ilefs*3
PRC1 binding
Makrythanasis et al 41
Family 3
2+Microlissen-cephaly frontal cerebral atrophy, partial agenesis of CCc.1375G>A
p.Gly459Arg
Motor domain
Makrythanasis et al 41
Family 4
2+Microcephaly15; 17c.4432delA
p.Ser1478fs
C-terminal tail
Reilly et al 42
Family 1
1Microcephaly, CC agenesis, brainstem hypoplasiaCystic RHD18c.35672?_4072+?del
p.Arg1189Argfs*9
C-terminal tail
Reilly et al 42
Family 2
3Microcephaly, holoprosencephalyBRA2, RHD1 33; 37+1; 18+3c.3910C>T, c.1090C>T
p.Gln1304*, p.Arg364Cys
C-terminal tail
Motor domain
Reilly et al 42
Family 3
3Microcephaly, CC agenesis, brainstem hypoplasiaCystic RHD24; 20+3; 18c.1367C>T, c.4138C>T
p.Thr456Met, p.Gln1380*
C-terminal tail
Motor domain
Reilly et al 42
Family 4
4MicrolissencephalyCystic RHD2, RHD1, BRA1 27+4; 17+4; 21+2; 23c.1792C>T
p.Arg598*
Motor domain
  • ASD, autism spectrum disorder; BRA, bilateral renal agenesis; CC, corpus callosum; CNS, central nervous system; FHA, forkhead associated; PRC1, protein regulating cytokinesis 1; RHD, renal hypodysplasia; wGA, weeks gestational age.