Disease relevance of ol

• The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the anteroposterior limb axis [1].
• Exposure to 400 mg/kg hydroxyurea did not affect the progeny, whereas exposure to 500 or 600 mg/kg resulted in dose-dependent increases in fetal resorptions and malformations, including curly tails, abnormal limbs (oligodactyly, hemimelia, and amelia), and short ribs [2].
• At 2 mg/kg/day, the incidence of cleft palate, renoureteral agenesis or hypoplasia, and poly- or oligodactyly was significantly increased, whereas fetal weight was reduced at 0.5 mg/kg/day [3].
• Malformations, such as micrognathia, hydrocephalus, short tail, oligodactyly, syndactyly, cleft lip, micromelia, and heart defects occurred, but no skeletal malformations were noted [4].

High impact information on ol

• We have investigated two unrelated children with a previously unreported pattern of severe developmental defects on the anterior-posterior (a-p) limb axis and in the genitalia, consisting of a single bone in the zeugopod, either monodactyly or oligodactyly in the autopod of all four limbs, and penoscrotal hypoplasia [5].
• As a result, anterior mesenchyme is not maintained, leading to oligodactyly [6].
• In the forelimb autopod, pre- and postaxial polydactyly were found most commonly, but also syndactyly, oligodactyly, and abnormal digit placement affecting posterior elements were observed [7].
• Furthermore, we created a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a deletion chromosome [8].
• Strangely, while newborns with no hip joint anomalies had a fairly high rate of oligodactyly, no newborn with hip joint anomalies had oligodactyly [9].

Chemical compound and disease context of ol

• Pretreatment with phorone or BSO decreased fetal weight and increased the frequency and severity of oligodactyly induced by 5-FU, as well as the reduction of maternal GSH levels [10].
• These lesions may play a role in the resorption, reduction in fetal body weight, and syndactyly or oligodactyly attributed to 2-methoxyethanol and 2-methoxyacetic acid [11].
• In rats, indium caused fetal weight decrease and fetal gross malformations, such as brachyury, kinked tail, cleft palate, and oligodactyly, most severely by the administration on day 10 [12].

Anatomical context of ol

• In the group treated with 10 mg of Ara-C on 9.5 dg, oligodactyly of the hindlimbs was produced more frequently in male fetuses [13].
• Almost all newborns with Ara-C-induced digital anomalies (oligodactyly or polydactyly) had anomalies of carpal or tarsal bones in the particular paw, while anomalies of carpal or tarsal bones could occur in the presence or absence of digital anomalies [14].

Associations of ol with chemical compounds

• Pretreatment with OTC decreased the frequency and severity of oligodactyly induced by 5-FU, although the differences were not significant statistically [15].
• Litters of pregnant mice treated with cyclophosphamide (CP) exhibit malformations of the limbs ranging from oligodactyly to amelia [16].

Other interactions of ol

• In EGF KO fetuses, relative to WT, the incidence of hindlimb oligodactyly was increased [17].
• Also, in this group, oligodactyly of the hindlimbs occurred more frequently in male fetuses, whereas polydactyly occurred more frequently in female fetuses [13].
• RESULTS: Fetal limbs were significantly shortened (p < 0.0001) and incidence of limb and digital defects (syndactyly, polydactyly, oligodactyly, clubbing, and webbing) was dramatically increased following mid-gestational maternal MNU exposure [18].

References