Table 1.
Patients with LRP4 Variants and their phenotypes. All patients have mesiodens with or without root maldevelopments and oral exostoses. Where known, the orientation and eruption status are shown for each. Patient 3 was homozygous for the p.Asn1385Ser variant, the other six patients were heterozygous for LRP4 variants. Patients 2 and 3 are daughters of patient 1. Patient 6 is the son of patient 5. Genomic coordinates are based on GRCh37. RefSeq accession numbers NM_002334.4; NP_002325.2 Genomic coordinates are given relative to GRCh37v1.6.
| Patients Gender/Age |
Families | Phenotypes | LRP4 Variants | DANN Score | CADD Scores (GRCh38) |
|---|---|---|---|---|---|
| 1 (Male: 52 Yr) |
1 | Mesiodens (Conical; erupted) buccal exostoses |
c.4154A > G; p.Asn1385Ser chr11:g.46896426T > C rs768733310, MAF: 0.00001768 |
0.9926 (pathogenic) | 22.3 |
| 2 (Female: 33 Yr) |
Mesiodens (Conical; erupted) |
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| 3 (Female: 17 Yr) Homozygous |
Mesiodens (Conical; erupted) |
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| 4 (Female: 30 Yr) |
2 | Mesiodens (Conical; unerupted) long roots of mandibular canines, short roots of second premolars, unseparated roots of second and third molars, torus mandibularis, and torus palatinus |
c.3940G > A; p.Gly1314Ser chr11: g.46896640 C > T rs371961330 MAF = 0.00009579 |
0.9966 (pathogenic) | 18.11 |
| 5 (Female: 41 Yr) |
3 | Mesiodens (Inverted; unerupted) |
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| 6 (Male: 13 Yr) |
Mesiodens (Unerupted, tuberculate) |
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| 7 (Female: 9 Yr) |
4 | Mesiodens (inverted; unerupted) unseparated roots of the maxillary first molars |
c.448G > A; p.Asp150Asn chr11:g.46921037C > T rs200746048, MAF: 0.00002787 |
0.9925 (pathogenic) | 22.3 |