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Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?

Authors
  • Barros-Nuñez, P
  • Medina, C
  • Mendoza, R
  • Sanchez-Corona, J
  • Garcia-Cruz, D
Type
Published Article
Journal
Clinical genetics
Publication Date
Sep 01, 1995
Volume
48
Issue
3
Pages
160–161
Identifiers
PMID: 8556825
Source
Medline
License
Unknown

Abstract

Typical isolated ocular coloboma is a congenital abnormality caused by a defective closure of the embryonic fissure of the optic cup. Although an irregular autosomal dominant mechanism of inheritance has been proposed, there is some evidence of other modes of transmission and etiologies. This report shows an unexpected recurrence of iris coloboma, occurring in three sibships of the same family, that could be explained by a "delayed mutation" or "premutation" mechanism.

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