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. 2023 Aug 4;17:1226181. doi: 10.3389/fnins.2023.1226181

Table 4.

KIF21A-CFEOM variant phenotypes.

NM_006086 Variant C28W D352E F355S M356T L685P E944Q M947V M947T M947R M947I R954W R954Q R954L D1001del A1008P I1010T
Nucleotide 84 C > G 1056 C > G 1064 T > C 1067 T > C 2054 T > C 2,830 G > C 2839 A > G 2840 T > C 2840 T > G 2841 G > A 2860 C > T 2861 G > A 2861 G > T 3000_3002delTGA 3022 G > C 3029 T > C
Pedigree Information # Pedigrees1 1 (Lu) 1 1 4 1 2 1 2 1 1 50+ 17 3 1 1 2
# M/F/fetus 5/2/0 0/1/0 1/0/0 10/11/1 1/0/0 3/0/0 0/3/0 3/0/0 0/1/0 15/12/0 25+/25+/0 11/24/0 2/3/0 1/2/0 0/1/0 14/8/0
Inheritance AD DN DN AD+DN DN AD+DN AD AD+DN DN AD AD+DN AD+DN AD+DN AD DN AD+DN
Eldest 73y 10y child 70s 13y adult adult adult 36y adult adult adult adult adult child adult
Peripheral NS dysfunction Kallmann nr nr nr no nr no no no no no no no no nr no no
CN II nr nr nr no nr no no no no no no no no 51–75% no no
CN III: CFEOM 100% yes yes 100% yes 100% 100% 100% 100% 75–100% 75–100% 100% 100% 100% 100% 100%
CN VII nr yes yes no yes no no mild no no no no no nr no mild
CN IX, X nr nr nr no nr no no no no no no no no nr no no
CN X nr nr nr no nr no no no no no no no no nr no no
PN nr nr nr no yes no no no no no no no no nr no no
C contractures nr nr nr no nr no no no no no no no no nr no no
Cyclic vomiting nr nr nr no nr no no no no no no no no nr no no
Cardiac aryth nr nr nr no nr no no no no no no no no nr no no
Central NS dysfunction Micro-cephaly nr nr nr no no no no no no no no no no nr no no
Strabismus nr nr nr no nr no no no no no no no no nr no no
Nystagmus nr nr nr no nr no no no no no no no no nr no no
OMA nr nr nr no nr no no no no no no no no nr no no
Seizures nr nr nr no nr no no no no no no no no nr no no
Motor delay nr yes yes no nr no no no no no no no no nr no no
LD nr L NA L NA no L NA no no no no no no no no nr no no
ID/Social nr yes yes no yes no no no no no no no no nr no no
Brain MRI abnormality Cerebral cortex nr no nr no no no no no no no no no no nr no no
AC nr no nr no nr no no no no no no no no nr no no
CC nr no yes no yes no no no no no no no no nr no no
White matter nr no nr no yes no no no no no no no no nr no no
Basal ganglia nr no nr no yes no no no no no no no no nr no no
Cerebellum nr no nr no yes no no no no no no no no nr no no
Brainstem nr no nr no yes no no no no no no no no nr no no

1Corresponding references for key pedigrees provided in the main text. no, absent; nr, not reported or mentioned in publication(s); percentages, percentage range of affected individuals for whom the phenotype has been reported. # Pedigrees, number of pedigrees reported in the literature; #M/F/U/fetus, number of affected individuals who are male, female, unknown or were a fetal case. AD, autosomal dominant; DN, de novo. Eldest, eldest reported individual to date harboring the variant. Y, years of age. Kallmann, anosmia and hypogonadotropic hypogonadism and/or hypoplasia/absence of olfactory sulci and bulbs. CN II: ONH, optic nerve: optic nerve hypoplasia. CN III: CFEOM, oculomotor nerve: congenital fibrosis of the extraocular muscles. CN VII: FW, facial nerve: congenital facial weakness. CN IX-XII: Sw., lower cranial nerves: swallowing dysfunction. CN X: VC, vagal nerve: vocal cord paralysis. PN, mixed sensorimotor axonal polyneuropathy. C contractures, congenital contractures. Cardiac Arrhy, sick sinus syndrome with or without a pacemaker. S NA, strabismus not relevant given CFEOM. N NA, nystagmus not relevant given CFEOM. OMA, oculomotor apraxia. LD, learning disorder. LD NA, LD not relevant given ID/Social disabilities. ID/Social, intellectual and social disabilities (including ASD). Cerebral cortex, malformation of cortical development. AC, hypoplasia or absence of anterior commissure. CC, hypoplasia or absence of corpus callosum. White matter, paucity of central white matter and/or aberrant fascicles or signal where noted. Basal ganglia, presence of any abnormality ranging from mild asymmetry of caudate to full malformation. Cerebellum, malformation of vermis and/or hemispheres. Brainstem, hypoplasia or malformation.