Table 1 Clinical characteristics of TMEM107 gene variations in reported cases.
From: Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
| Â | Shaheen et al. (2015) | Bruel et al. (2017)/Lambacher et al. (2016)/Darmency-Stamboul et al. (2013) | Lambacher et al. (2016) | Iglesias et al. (2014)/Shylo et al. (2016) | Present case | |
|---|---|---|---|---|---|---|
Cases | 1 | 2a | 2b | 3 | 4 | 5 |
Clinical subtype | MKS | OFDVI | OFDVI | JBS | atypical OFD | OFDXVI |
Gene analysis results | p.Ser92Cysfs*7/p.Ser92Cysfs*7 | p.Glu45Gly/ p.Glu45Gly | p.Glu45Gly/ p.Glu45Gly | p.Leu134Phefs*8/ p.Phe106del | p.Phe106del/ p.Phe106del | p.Phe106del/ p.Phe106del |
Sex | Male | Female | Female | Male | NA | Male |
Age at last follow-up | Still-born | 9 years | 9 years | 22 years | 2 years | 3 years |
Origin | Saudi Arabia | Turkey | Turkey | Caribbean | NA | Japan |
Consanguinity | + | + | + | − | NA |  −  |
Cleft lip | − | − | − | − | − | − |
Cleft palate | NA |  −  | − | − | − | + |
Lobulated tongue | NA |  −  | − | − | − | + |
Abnormal frenula | NA | + | + | − | NA | + |
Lingual harmatomas | NA | + | + | − | + | + |
Micro/retroagnathia | + | − | − | − | + | + |
Hypertelorism | + | + | + | − | NA | + |
Flat nasal bridge | + | NA | NA | NA | + | + |
Retinopathy | NA | + | + | + | NA |  −  |
Low-set ears | + | + | + | − | + | + |
Hand/polydactyly | + | + | + | − | + | + |
Foot/polydactyly | + | + | + | − | + | + |
Apnea/hyperpnea | NA | + | + | − | NA | + |
Ataxia | NA | + | + | + | NA | + |
Oculomotor apraxia | NA | + | + | + | NA |  −  |
Developmental delay | NA | + | + | + | + | + |
Cerebellar hypoplasia | NA | + | + | + | − | + |
Molar tooth sign | NA | + | + | + | − | + |
Heterotopia | NA | + | + | − | − | − |
Polymicrogyria | NA |  −  | + | − | − | − |
Tibial dysplasia | NA |  −  | − | − | − | + |
