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Table 1 Summary of all reported ALDH1A3 variants associated with anophthalmia and microphthalmia

From: Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Type of mutation Mutations Variants Ethnicity Patients # Clinical diagnosis Literature
Missense c.211G > A p. Val71Met Israeli 9 AM Mory et al. [15]
c.265C > T p. Arg89Cys Pakistani 2 AM Fares-Taie et al. [6]
c.287G > A p.Arg96His Chinese 1 A Liu et al. [21]
c.434C > T p. Ala145Val Saudi Arabian 2 M Aldahmesh et al. [14]
c.521G > A p.Cys174Tyr Lebanese 3 AM Roos et al. [16]
c.709G > A p.Gly237Arg Chinese & Iranian 3 A Liu et al. [21]; Dehghani et al. [19]
c.845G > C p.Gly282Ala Arabic 2 M Alabdullatif et al. [20]
c.964G > A p.Val322Met Indian 1 A Ullah et al. [3]
c.1064C > G p.Pro355Arg Egyptian 1 A Abouzeid et al. [17].
c.1105A > T p. Ile369Pro Saudi Arabian 3 M Aldahmesh et al. [14]
c.1144G > A p.Gly382Arg Egyptian 4 A Abouzeid et al. [17]
c.1231G > A p.Glu411Lys Sri Lankan 1 M Abouzeid et al. [17]
c.1398C > A p.Asn466Lys Turkish 2 AM Semerci et al. [18]
c.1477G > C p. Ala493Pro Turkish 1 AM Fares-Taie et al. [6]
c. 1240G > C p.Gly414Arg Pakistani 4 A Present study
Nonsense c.568A > T p.Lys190 Egyptian 2 AM Yahyavi et al. [5]
c.898G > T p.Glu300 Spanish 1 M Abouzeid et al. [17]
c.1165A > T p.Lys389 Hispanic 1 AM Yahyavi et al. [5]
Splicing c.204 + 1G > A
Alteration of the WT donor site
affecting splicing Egyptian 2 AM Abouzeid et al. [17]
c.475 + 1G > T
Skipping of exon 5
p. Asp159-Pro179 del Moroccan 1 AM Fares-Taie et al. [6]
c.666G > A
Skipping of exon 6
p.Trp180_Glu222del Turkish 7 AM Semerci et al. [18]
Plaisancié et al. [13]
c.1391 + 1G > T
Alteration of the WT donor site
affecting splicing Egyptian 1 A Abouzeid et al. [17]
Frameshift c.1310_1311delAT p.Tyr437Trpfs*44 Pakistani 4 A Ullah et al. [3]
c.172dup p. Glu58Glyfs*5 Pakistani 3 A Present study
  1. WT wild type, AM anophthalmia and microphthalmia, A anophthalmia, M microphthalmia