Disease relevance of ASMD

• A 17-bp insertion in the 3'-end of the coding sequence, resulting in a frame shift, occurred in a patient with ASMD and cataracts, and a G-->A substitution, changing a codon for serine into a codon for asparagine, in the 5'-end of the gene occurred in a patient with congenital cataracts [1].
• Our case provides a further example of the association of ASMD with a chromosomal abnormality [2].
• Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature [3].
• Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome [4].
• The authors describe a case of hypomelanosis of Ito occurring with anterior segment mesenchymal dysgenesis of the Axenfeld type [5].

High impact information on ASMD

• A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD [1].
• Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4 [6].
• Anterior segment mesenchymal dysgenesis in this family appeared to be caused by an aberration of the first wave of mesenchyme from the rim of the optic cup [7].
• Histopathological examination of the eyes showed dysgenesis of Bowman's membrane, with glycosaminoglycan deposition and a series of structural anomalies that form part of the anterior segment mesenchymal dysgenesis (ASMD) complex [2].

Biological context of ASMD

• Although the same genotype was described in a family with ASMD and cataracts, the common phenotype of this mutation is probably posterior polar cataract; a modifier gene is presumed to cause anterior segment abnormalities in the previously described patients [8].

Other interactions of ASMD

• CONCLUSION: Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD [9].

References