TABLE 1.
Summary of the genetic and clinical features of KIF26A patients.
| Case 1 | Case 2 | Case 3 | #1 PMID: 36064622 | #2 PMID: 36064622 | #3 PMID: 36064622 | #4 PMID: 36064622 | #5 PMID: 36064622 | # 1PMID: 36228617 | #2 PMID: 36228617 | #3 PMID: 36228617 | #4 PMID: 36228617 | #5 PMID: 36228617 | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8 years, M | 6 months, F | 8 years, F | 14 months, F | 3.5 years, M | 4 months, M | 2 months, M | 2 months, M | 21 gestational weeks, M | 3 month, M | 17 years, M | 30, M | 3 years 6 months?, M | ||
|
KIF26A variant |
c.4378C > T, p.(Arg1460Trp); c.5238C > G, p.(Phe1746Leu) |
c.4085dup, p.(Ala1363Glyfs*47) | c.3996C > A, p.(Cys1332*) | c.792dupC, p.(Val265Argfs*5) | c.792dupC, p.(Val265Argfs*5) | ? | c.792dupC, p.(Val265Argfs*5) | c.3330delC, p.(Ser1111Alafs*137) | c.2161C > T, p.(Arg721Cys); c.4676C > T, p.(Ala1559Val) | c.3440dupC, p.(Ala1148Cysfs*20) | c.4676C > T, p.(Arg1624Cys); c.4870C > T, p.(Ala1559Val) |
c.2845C > T, p.(Pro949Ser); c.4676C > T, p.(Ala1559Val) |
c.4804C > T, p.(Arg1602Trp) | |
| Psychomot or delay | + | + | + | NA | + | NA | NA | + | NA | NA | NA | NA | NA | |
| Motor delay | + | NA | + | NA | + | NA | NA | + | NA | NA | NA | NA | NA | |
| Speech delay | − | NA | + | NA | + | NA | NA | + | NA | NA | NA | NA | NA | |
| Intellectual disability | − | NA | + | NA | NA | NA | NA | NA | NA | NA | + | NA | NA | |
| DD/ID severity | Mild | − | − | Mild | Moderate | Moderate | NA | NA | NA | NA | Mild | NA | + | |
| Facial dysmorphism | + | − | − | − | NA | NA | − | − | − | − | − | NA | NA | |
| Abnormal OFC | − | + | − | − | − | − | + | − | + (microcephaly) | − | − | NA | NA | |
| Neurologic al features | ||||||||||||||
| Hypotonia | + | + | − | − | NA | NA | NA | NA | NA | NA | NA | NA | NA | |
| Spasticity | − | − | + | − | NA | NA | NA | + | NA | NA | NA | NA | NA | |
| Dysarthria | − | − | − | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | |
| Epilepsy | − | − | +Receiving | − | − | − | − | − | − | − | − | − | − | |
| Seizure onset | − | − | treatment | − | − | − | − | − | − | − | − | − | − | |
| Seizure type | − | − | − | − | − | − | − | − | − | − | − | − | − | |
| Response to AEDs | NA | NA |
− NA |
− | − | NA | NA | NA | NA | NA | NA | NA | NA | |
| Hirschsprung disease/PIPO | + | + | − | − | − | − | + | − | − | − | − | − | − | |
| Cardiac defects | + | + | − | + | + | + | + | NA | NA | NA | NA | NA | NA | |
| Other clinical manifestations | Dacryocystocele, dyscrania, clinodactyly | Arachnodactyly |
Hearing problems |
Dehydration, fever | Ischemic small bowels | Ascites | − | Intestinal obstruction | Megacolon |
High arched palate and long philtrum |
High arched palate and long philtrum |
− | − | |
| Brain MRI | ||||||||||||||
| Ventriculomegaly/Hydrocephalus | + | + | NA | + | + | + | + | + | + | + | + | + | + | |
| Gyration defects | + | − | NA | − | − | − | − | − | − | − | − | + | + | |
| Heterotopia | + | − | NA | − | − | − | − | − | − | − | − | − | − | |
| CCH/CCA | − | + | NA | + | + | − | − | − | + | + | + | − | + | |
|
Other malformations |
+ | Hypogenesis of septum pellucidum | NA |
Brainstem patterning disorder |
Brainstem patterning disorder |
Long midbrain and small pons |
CC squaring, long midbrain |
Brain atrophy, reduced white matter | Bilateral schizencephaly | Absent hippocampal commissure, reduced white matter, schizencephaly | − | − | − |
Abbreviations: CC, corpus callosum; CCA, corpus callosum agenesis; CCH, corpus callosum hypoplasia; PIPO, intestinal pseudo‐obstruction.