Table 1.
All published and unpublished patients with KIFBP variants and their clinical features (ENST00000361983.7)
| Code | US1 | US2 | Case1 | Case2 | BP1 | BP2 | V‐4 | V‐6 | V‐9 |
|---|---|---|---|---|---|---|---|---|---|
| Sex | M | F | M | M | F | F | M | F | M |
| KIFBP variant | c.1551‐1552insA | c.1551‐1552insA | c.250G>T | c.250G>T | c.250G>T | c.250G>T | c.268C>T | c.268C>T | c.268C>T |
| Protein | p. Gln518 Asnf*11 | p. Gln518 Asnf*11 | p. Glu84* | p. Glu84* | p. Glu84* | p. Glu84* | p. Arg90* | p. Arg90* | p. Arg90* |
| HSCR | + | + | + | + | + | − | + | + | − |
| Facial dysmorphism | + | + | + | + | + | + | + | + | + |
| Microcephaly | + | + | + | + | + | + | − | + | + |
| Brain malformation | + | + | + | + | + | + | + | + | + |
| Developmental delay | + | + | + | + | + | + | + | + | + |
| Seizures | + | − | − | − | − | − | − | − | − |
| Neuropathy | ? | ? | ? | ? | ? | ? | ? | ? | ? |
| Short stature | + | + | + | + | + | + | ? | + | + |
| Hypotonia | + | + | ? | ? | ? | ? | ? | ? | + |
| Eye anomalies (coloboma, ptosis, hyperopia; megalocornea) | + | + | + | + | + | + | ? | + | + |
| Cardiac anomalies (ventricular septal defects, aortic valve incompetence) | − | − | − | − | − | − | ? | − | − |
| Skeletal anomalies (oligodontia, scoliosis) | + | + | + | − | − | − | + | + | − |
| OFC centile | <2nd centile | <2nd centile | <3rd centile | <3rd centile | 3rd centile | ? | 3rd centile | 3rd centile | <3rd centile |
| Ref | Goldberg and Shprintzen (1981) | Goldberg and Shprintzen (1981) | Hurst et al. (1988) | Hurst et al. (1988) | Hurst et al. (1988) | Brooks (2005) | Brooks et al. (1999) | Brooks et al. (1999) | Brooks et al. (1999) |
| Code | VI‐1 | VI‐3 | CYP1 | CYP2 | UK1 | UK2 | AU1 | IV‐2 | IV‐1 |
|---|---|---|---|---|---|---|---|---|---|
| Sex | F | F | M | F | M | M | F | M | M |
| KIFBP variant | c.268C>T | c.268C>T | c.718G>T | c.718G>T | c.1117‐1118insA | c.1117‐1118insA | c.1397dupA | c.268C>T | c.599C>A |
| Protein | p. Arg90* | p. Arg90* | p. Glu240* | p. Glu240* | p. Ala373 Asnf*17 | p. Ala373 Asnf*17 | p. Tyr466* | p. Arg90* | p. Ser200* |
| HSCR | + | + | + | − | + | + | + | + | + |
| Facial dysmorphism | + | + | + | + | + | + | + | + | + |
| Microcephaly | + | + | + | + | + | + | + | + | |
| Brain malformation | + | + | + | + | + | + | + | + | + |
| Developmental delay | + | + | ? | ? | + | + | + | + | + |
| Seizures | − | − | − | − | + | − | ? | ? | ? |
| Neuropathy | ? | ? | ? | ? | ? | ? | ? | ? | ? |
| Short stature | + | ? | ? | ? | ? | ? | + | ? | ? |
| Hypotonia | + | ? | + | + | + | + | ? | ? | ? |
| Eye anomalies (coloboma, ptosis, hyperopia; megalocornea) | ? | ? | ? | ? | − | − | − | + | + |
| Cardiac anomalies (ventricular septal defects, aortic valve incompetence) | − | ? | ? | ? | − | − | − | − | + |
| Skeletal anomalies (oligodontia, scoliosis) | + | ? | − | + | + | + | − | − | + |
| OFC centile | 3rd centile | ? | <3rd centile | ? | <3rd centile | <3rd centile | ? | ? | ? |
| Ref | Brooks et al. (1999) | Brooks et al. (2005) | Brooks (2005) | Brooks (2005) | Murphy et al. (2006) | Murphy et al. (2006) | Bruno et al. (2011) | Drévillon et al. (2013) | Drévillon et al. (2013) |
| Code | IV‐3 | IV‐1.2 | V‐2 | IV.5 | IV.8 | UK7 | IRN1 | IE1 | UK3 |
|---|---|---|---|---|---|---|---|---|---|
| Sex | M | F | F | F | F | F | M | F | M |
| KIFBP variant | c.599C>A | c.604_605 delAG | c.604_605delAG | Deletion exon 2 & 3 | Deletion exon 2 & 3 | Deletion exon 5 & 6 | c.976C>T | c.1694_1695 delAG | Deletion exon 6 |
| Protein | p. Ser200* | p. Arg202 Ilefs*2 | p. Arg202 Ilefs*2 | p. Asn143fsX1 | p. Asn143fsX1 | − | p. Gln326* | p. Glu565 AsnfX15 | − |
| HSCR | + | − | + | − | ? | + | + | + | + |
| Facial dysmorphism | + | + | + | + | − | + | + | + | + |
| Microcephaly | + | + | + | + | + | + | + | + | + |
| Brain malformation | + | + | + | + | + | + | + | + | + |
| Developmental delay | + | + | + | + | + | + | + | + | + |
| Seizures | ? | ? | ? | ? | ? | − | + | ? | − |
| Neuropathy | ? | ? | ? | ? | ? | + | ? | ? | + |
| Short stature | ? | ? | ? | ? | ? | + | + | ? | + |
| Hypotonia | ? | ? | ? | ? | ? | + | + | + | ? |
| Eye anomalies (coloboma, ptosis, hyperopia; megalocornea) | + | − | − | ? | ? | + | + | + | + |
| Cardiac anomalies (ventricular septal defects, aortic valve incompetence) | − | − | + | ? | ? | + | − | + | − |
| Skeletal anomalies (oligodontia, scoliosis) | + | − | − | ? | ? | + | − | − | + |
| OFC centile | ? | ? | ? | 3rd centile | 3rd centile | <0.4th centile | normal | ? | <0.4th centile |
| Ref | Drévillon et al. (2013) | Drévillon et al. (2013) | Drévillon et al. (2013) | Valence et al. (2013) | Valence et al. (2013) | Dafsari et al. (2015) | Salehpour et al. (2017) | This paper | This paper |
| Code | UK4 | PL1 | PL2 | NO1 | NO2 | CYP3 | NL1 | |
|---|---|---|---|---|---|---|---|---|
| Sex | F | M | M | F | M | F | M | |
| KIFBP variant | Deletion exon 6 | c.1516dupA | c.1516dupA | Deletion exon 5&6 | Deletion exon 5&6 | c. 565C>T | c.68A>G; c.1279A>G | |
| Protein | − | p. Ile506 Asnfs*3 | p. Ile506Asnfs*3 | − | − | p. Pro189Ser | p. Glu23Gly; p. Ser427Gly | |
| HSCR | − | + | − | + | − | + | − | |
| Facial dysmorphism | + | + | + | + | + | + | − | |
| Microcephaly | + | + | + | + | + | + | + | |
| Brain malformation | − | − | + | + | + | + | + | |
| Developmental delay | + | + | + | + | + | + | + | |
| Seizures | − | − | − | − | − | − | − | |
| Neuropathy | ? | − | − | − | − | + | ? | |
| Short stature | + | + | + | + | + | + | + | |
| Hypotonia | ? | − | − | + | + | ? | ? | |
| Eye anomalies (coloboma, ptosis, hyperopia; megalocornea) | − | + | + | + | + | + | ? | |
| Cardiac anomalies (ventricular septal defects, aortic valve incompetence) | − | − | − | − | + | − | ? | |
| Skeletal anomalies (oligodontia, scoliosis) | + | + | + | − | + | + | ? | |
| OFC centile | <0.4th centile | <3rd centile | <3rd centile | <1st centile | <1st centile | <0.4th centile | ? | |
| Ref | This paper | This paper | This paper | This paper | This paper | This paper | This paper | |
Abbreviation: HSCR, Hirschsprung disease.