Table 2.
Selected known and novel variants identified in TSPEAR, LAMB3, and WNT10A with associated phenotypes
| TSPEAR | ||||
|---|---|---|---|---|
| Nucleotide change | Protein change | Zygosity | Phenotype Spectrum | |
| c.[454_457delCTGG];[1726G>T; 1728delC] | p.[Leu152Trpfs*29];[Val576Phe;Lys577Serfs*37] | Comp het | Scalp hypotrichosis, hypodontia and conical teeth, facial dysmorphism (Peled et al. 2016) | |
| c.1726_1728delGTCinsTT (a.k.a. c.[1726G>T; 1728delC]) | p.Val576Leufs*38 | Hom | Congenital profound sensorineural deafness (Delmaghani et al. 2012); oligodontia, microcephaly, narrow forehead, increased hair growth on the forehead, high arched palate, low set ears, minimal striation at the border of ear lobules and antitragus (this study) | |
| c.[1726G > T; 1728delC] | p.[Val576Phe; Lys577Serfs*37] | Hom | Scalp hypotrichosis, hypodontia and microdontia, facial dysmorphism (Peled et al. 2016) | |
| c.[1852T>A];[1915G>A] | p.[Tyr618Asn];[Asp639Asn] | Comp het | Scalp hypotrichosis, hypodontia and conical teeth, facial dysmorphism (Peled et al. 2016) | |
| c.1877T>C | p.Phe626Ser | Hom | Oligodontia (this study) | |
| LAMB3 | ||||
| Nucleotide change | Protein change | Zygosity | Phenotype Spectrum | |
| c.124C>T | p.Arg42* | Comp w/ missense | nH-JEB (Kivirikko et al. 1996; McGrath et al. 1995b; Mellerio et al. 1998) | |
| c.124C>T | p.Arg42* | Comp w/ nonsense | H-JEB (Kivirikko et al. 1996) | |
| c.496C>T | p.Gln166* | Comp w/ nonsense | H-JEB (Takizawa et al. 1998b) | |
| c.547C>T | p.Arg183Cys | Hom | Oligodontia and mild maxillary hypoplasia (this study) | |
| c.628G>A | p.Glu210Lys | Comp w/ nonsense | nH-JEB (Kivirikko et al. 1996; McGrath et al. 1995b; Mellerio et al. 1998; Posteraro et al. 1998) | |
| c.904delT | p.Trp302Glyfs*94 | Comp w/ missense | nH-JEB (Posteraro et al. 1998) | |
| c.1439_1443delCGTGT | p.Pro480Argfs*54 | Comp w/ nonsense | nH-JEB (Pulkkinen and Uitto 1998) | |
| c.1587_1588delAG | p.Gly530Metfs*5 | Comp w/ nonsense | Uncommon/nH-JEB (Gache et al. 2001; Nakano et al. 2002) | |
| c.1830G>A | p.Trp610* | Comp w/ nonsense | H-JEB (Takizawa et al. 1998b) | |
| c.1903C>T | p.Arg635* | Comp w/ COL17A1 (digenic) | nH-JEB (Floeth and Bruckner-Tuderman 1999) | |
| c.1903C>T | p.Arg635* | Hom; Comp w/ nonsense/splicing | H-JEB (Pulkkinen et al. 1994; Pulkkinen et al. 1997) | |
| c.2806C>T | p.Gln936* | Hom | H-JEB (Takizawa et al. 1998a) | |
| c.3357_3358insC | p.Met1120Hisfs*40 | Het | AI (Lee et al. 2015) | |
| c.3392_3393insG | p.Glu1132Glyfs*28 | Het | AI (Poulter et al. 2014) | |
| c.3431C>A | p.Ser1144* | Het | AI (Kim et al. 2013) | |
| c.3446_3453delGACTGGAG | p.Gly1149Glufs*8 | Het | AI (Kim et al. 2013) | |
| c.3452_3458delAGAAGCG | p.Glu1151Valfs*57 | Het | AI (Kim et al. 2016) | |
| c.3463_3475delGAGCAGATCCGTG | p.Glu1155Thrfs*51 | Het | AI (Lee et al. 2015) | |
| c.3466C>T | p.Gln1156* | Het | AI (Wang et al. 2015) | |
| WNT10A | ||||
| Nucleotide change | Protein change | Zygosity | Phenotype Spectrum | |
| c.27G>A | p.Trp9* | Hom | OODD (Bohring et al. 2009) | |
| c.283G>A | p.Glu95Lys | Comp w/ missense | STHAG4 (van den Boogaard et al. 2012) | |
| c.321C>A | p.Cys107* | Het; Hom; Comp w/ missense |
OODD; SPSS; STHAG4 (Bohring et al. 2009) | |
| c.383G>A | p.Arg128Gln | Het; Comp w/ nonsense |
OODD; STHAG4 (Bohring et al. 2009; van den Boogaard et al. 2012) | |
| c.433G>A | p.Val145Met | Hom | STHAG4 (Dinckan et al. 2018; van den Boogaard et al. 2012) | |
| c.637G>A | p.Gly213Ser | Het; Comp w/ missense | STHAG4 (Kantaputra et al. 2014; Song et al. 2014; Yuan et al. 2017) | |
| c.649G>A | p.Asp217Asn | Comp w/ missense | STHAG4 (Kantaputra and Sripathomsawat 2011) | |
| c.682T>A | p.Phe228Ile | Het; Hom; Comp w/ nonsense |
OODD; STHAG4 (Bohring et al. 2009; Dinckan et al. 2018; Kantaputra and Sripathomsawat 2011; van den Boogaard et al. 2012); TA with high and narrow palate, and short philtrum (this study) | |
| c.697G>T | p.Glu233* | Hom | OODD (Adaimy et al. 2007; Dinckan et al. 2018) | |
| c.1070C>T | p.Thr357Ile | Het; Comp w/ missense | STHAG (Song et al. 2014; Yuan et al. 2017) | |
| c.1128C>A | p.Cys376* | Hom | OODD (Bohring et al. 2009) | |
The variants found in this study are highlighted in bold.
Abbreviations: Het, heterozygous; Hom, homozygous; Comp, compound heterozygous; AI, amelogenesis imperfecta; H-JEB, Herlitz type junctional epidermolysis dysplasia; nH-JEB, non-Herlitz type junctional epidermolysis dysplasia; OODD, odontoonychodermal dysplasia; SPSS, Schopf-Schulz-Passarge syndrome; STHAG4, tooth agenesis, selective, 4, with or without ectodermal dysplasia.