Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.

Abstract

Posterior amorphous corneal dystrophy (PACD) (OMIM 612868) is a rare autosomal dominant disorder characterized by partial or complete posterior lamellar corneal opacification, decreased corneal thickness and flattening of the corneal curvature. PACD is associated with heterozygous deletions in chromosome band 12q21.33 harboring DCN, KERA, LUM, and EPYC which encode small leucine-rich proteoglycans. We report on a 7-year-old male patient with PACD who had an interstitial deletion of 1.3 Mb in 12q21.33. His mother carried a balanced insertional translocation involving this 12q21.33 segment which was inserted into the proximal part of the long arm of one chromosome 13. The patient corroborates previous observations that PACD is a contiguous gene syndrome caused by combined haploinsufficiency of DCN, KERA, LUM, and EPYC and provides the first example of a balanced chromosome rearrangement involving 12q21.33 in an unaffected parent.

• Authors: Janine Lenk, Joseph Porrmann, Martin Smitka, Ines Eger, Evelin Schröck, Karl Hackmann, Robert Herber, Frederik Raiskup, Andreas Tzschach
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 39 Issue 5 Pg. 645-647 (10 2018) ISSN: 1744-5094 [Electronic] England
• PMID: 30058938 (Publication Type: Case Reports, Journal Article)

Chemical References

• DCN protein, human
• Decorin
• EPYC protein, human
• KERA protein, human
• LUM protein, human
• Lumican
• Proteoglycans
• Small Leucine-Rich Proteoglycans

Topics

• Child
• Chromosome Deletion
• Chromosomes, Human, Pair 12
• Corneal Dystrophies, Hereditary (genetics, pathology)
• Decorin (genetics)
• Haploinsufficiency
• Humans
• Lumican (genetics)
• Male
• Prognosis
• Proteoglycans (genetics)
• Small Leucine-Rich Proteoglycans (genetics)