Phenotypic features of the patients with various ALDH1A3 mutations
| Nature of mutations | Splice site | Nonsense | Missense | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Mutation | c.666G>A skipping of EXON 6 | c.475+1G>T skipping of EXON 5 | EXON 6 c.568A>G | EXON 10 c.1165A>T | EXON 3 c.211G>A | EXON 3 c.265C>T | EXON 5 c.434C>T | EXON 5 c.521C>T | EXON 9 c.1105A>T | EXON 12 c.1398C>A | EXON 13 c.1477G>C |
| Amino acid | In-frame 43-bp deletion | Deletion | p.Lys190* | p.Lys389* | p.Val71Met | p.Arg89Cys | p.Ala 145Val | p.Cys 174Tyr | p.Ile369Phe | p.Asn466Lys | p.Ala493Pro |
| Ethnicity | Turkish | Moroccan | Egyptian | Hispanic | Arabic | Pakistani | Arabic | Lebanese | Arabic | Turkish | Turkish |
| Literature | Present | Fares-Taie et al4 | Yahyavi et al5 | Yahyavi et al5 | Mory et al7 | Fares-Taie et al4 | Aldahmesh et al6 | Roos et al8 | Aldahmesh et al6 | Present | Fares-Taie et al4 |
| Number of patients | CNS-1; 3 patients | Fam 3; 1 patient | Fam 1; 2 patients | 1 patient | 9 patients | Fam 1; 2 patients | 2 patients | 3 patients | Fam 1; 3 patients | CNS-2, 2 patients | Fam 2; 1 patient |
| Gender | VII-2: F VII-4: M VII-5: M | II-3 :F | III-3: M III-6: M | Patient III: F | 6 males, 3 females | IV-1: F IV-5: M | Index: F Sister: F | IV-3: M IV-4: F IV-5: M | IV-5: M IV-7: M IV-8: M | IV-4: F IV-6: M | IV-1: F |
| Autistic features | VII-4: yes VII-5: yes | No | No | No | No | IV-1: yes IV-5: yes | No | IV-5: yes | yes in one case | IV-6: yes | No |
| ANOP/MCOP | VII-2 : mcop VII-4: anop VII-5: anop | mcop | III-3: mcop III-6: anop (R) mcop (L) | anop | mcop | IV-1: anop IV-5: mcop | Index: mcop Sister: mcop | IV-3: no IV-4: no IV-5: mcop | mcop | anop | mcop |
| Optic nerve | VII-2: n.a. VII-4: hypo VII-5: hypo | hypo | III-3: n.a. III-6: AP (L) | hypo | hypo | IV-1: hypo IV-5: n.a. | n.a. | IV-3: n.a. IV-4: n.a. IV-5: hypo (R) | n.a. | IV-4: hypo IV-6: hypo | n.a. |
| Optic chiasm | VII-2: n.a. VII-4: AP VII-5: AP | hypo | n.a. | hypo | n.a. | IV-1: hypo IV-5: n.a. | n.a. | IV-3: n.a. IV-4: n.a. IV-5: N | n.a. | IV-4: AP IV-6: n.a. | n.a. |
| Orbital cyst | VII-2: yes VII-5: yes | Yes | No | No | Yes | IV-5: yes | No | No | IV-7: yes IV-8: yes | No | No |
| Coloboma (I and/or C) | no | No | No | n.a | IV-1: no IV-5: n.a. | Yes | Yes (L) | Yes | No | No | |
| Other | VII-4: DWM, VII-5: Nevus flammeus | No | III-6: retinal detachment (L) | No | no | IV-1: DD, IV-5: DD and cardiac defect | Retinal detachment in both cases | IV-3: Displaced pupil and hyperopia, IV-4: Scleralized corneas, displaced pupils, malformed optic disc and PD, IV-5: Displaced pupil and PD | IV-5: Esotropia, hyperopia IV-8: DD | No | No |
anop, clinical anophthalmia; AP, aplastic; C, chorioretinal; DD, developmental delay; DWM, Dandy–Walker malformation; Fam, family; HYPO, hypoplastic; I, iris; L, left; mcop, microphthalmia; n.a., not available/unknown; N, normal; PD, psychomotor delay; R, right.