TABLE 3.
Sequence variations found in SMMCI (not HPE) and its main clinical findings.
| Gene | Nucleotide variation | Main clinical manifestations | Reference |
|---|---|---|---|
| SHH | c.331A > T p.I111F | SMMCI, choanal stenosis | Nanni et al. (2001) |
| SHH | c.331A > T p.I111F | SMMCI, choanal stenosis, slow learner | |
| SHH | c.995T > C p.V332A | SMMCI, choanal stenosis, hypotelorism, microcephaly, patent ductus arteriosus, premaxillary region dysplasia | Dubourg et al. (2004) |
| SHH | c.995T > C p.V332A | SMMCI, cleft palate, hypotelorism, short stature, corpus callosum dysplasia, colpocephaly | |
| SHH | c.420C > G p.H140Q | SMMCI, hypotelorism, microcephaly, neurohypophyseal tumor | Ribeiro and Richieri-Costa (2005) |
| SIX3 | c.686C > T p.P229L | SMMCI, hypotelorism | El-Jaick et al. (2007) |
| SIX3 | c.109G > T p.G37C | SMMCI, cleft lip/palate, choanal atresia, ptosis, coloboma, microcephaly, short stature, mild intellectual disability, ventricular septal defect | Poelmans et al. (2015) |
| TGIF1 | c.83C > G p.S28C | SMMCI, congenital nasal pyriform aperture stenosis, hypotelorism, microcephaly, growth retardation, corpus callosum dysplasia | Gripp et al. (2000) |
| COL4A2 | c.3896G > A p.G1299E | SMMCI, congenital nasal pyriform aperture stenosis, microcephaly, growth retardation, schizencephaly, dermoid cyst | Gazdagh et al. (2017) |
| COL4A2 | c.3896G > A p.G1299E | SMMCI, delayed speech, dermoid cyst | |
| DISP1 | c.4049delC p.S1350fs | SMMCI, choana stenosis, coloboma of iris and retina, microcephaly, growth hormone deficiency, growth retardation, corpus callosum dysplasia, delayed speech, epilepsy, central diabetes insipidus | Garcia Rodriguez et al. (2019) |
| ZIC2 | c.80C > T p.A27V | ||
| PTCH1 | c.109G > T p.G37W | ||
| SIX3 | c.514G > A p.A172T | ||
| ASLX1 | c.583G > A p.A195T | ||
| SMO | c.1265G > A p.G422E | SMMCI, congenital nasal pyriform aperture stenosis | Zatonski et al. (2020) |
| PLD2 | c.956delA p.Q319fs | ||
| P2RY13 | c.615G > A p.W205* |