Table 1 The patients identified with enamel defects and ITGB6 variants.
Patient | Age (Y) | Nation/ Ethnic | Consanguinity | Inheritance | Nucleotide change | Amino acid change | Exon | Clinical features | Radiographic features |
|---|---|---|---|---|---|---|---|---|---|
This study | |||||||||
Proband | 8 | Thai | No | Cpd Het | c.625 G > T c.1661-3 C > G | p.(Gly209*)- | 5 Intron11 | - Pitted, rough, chalky and yellowish enamel -Hypomineralized and hypoplastic enamel -Generalized gingival inflammation -Anterior open bite | -Reduced radiopacity and thickness of enamel -Taurodontism: maxillary upper second molars |
Wang et al., 2014 | |||||||||
Proband | 8 | Hispanic | No | Cpd Het | c.427 G > A c.825 T > A | p.(Ala143Thr) p.(His275Gln) | 4 | -Very thin/hypoplastic enamel, rough surface -Anterior open bite, Class III malocclusion, attrition | Thin and normal contrasting layer of enamel (unerupted teeth) |
(Family1) | 6 | ||||||||
Proband | 8 | Hispanic | No | Homo | c.1846C > T | p.(Arg616*) | 11 | -Yellow-brown, rough, hypoplastic enamel -Thin enamel collar at the cervical margin -Attrition -Hutchinson/screwdriver maxillary incisors -A hemizygous c.1697T > C p.(Met566Thr) in the NHS Actin Remodeling Regulator or Nance-Horan Syndrome (NHS). | -Thin and contrasting layer of enamel (Unerupted teeth) -Missing mandibular left second molar |
(Family2) | |||||||||
Poulter et al., 2013 | |||||||||
V:3 | 7 | Pakistan | Yes | Homo | c.586 C > A | p.(Pro196Thr) | 4 | -Pitted, rough, hypomineralized enamel with pigmentation -Remaining enamel on the molar cusp tips and cervical margin -Reduced mineral density and voids in enamel -Disturbed orientation of enamel prisms | Near-normal volume and contrasting enamel (unerupted teeth) |
Seymen et al., 2015 | |||||||||
Proband | 8 | Turkish | Yes | Homo | c.517 G > C | p.(Gly173Arg) | 4 | -Thin, pitted, pigmented, hypoplastic and hypomineralized enamel. -Thicker enamel in the cervical area of molars | Reduced thickness and radiopacity of enamel |
Ansar et al., 2016 | |||||||||
IV-2 | 33 | Pakistan | Yes | Homo | c.898 G > A | p.(Glu300Lys) | 6 | -Adolescent alopecia, intellectual disability -Rough enamel, yellowish-brown staining, malocclusion, gingival recession, tooth loss -AI feature was not definite. | Not available |
IV-3 | 39 | ||||||||
IV-6 | 40 | ||||||||
