Premium
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?
Author(s) -
BarrosNuñez P.,
Medina C.,
Mendoza R.,
SanchezCorona J.,
GarciaCruz D.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04078.x
Subject(s) - coloboma , iris (biosensor) , mechanism (biology) , mutation , abnormality , genetics , biology , medicine , ophthalmology , gene , philosophy , computer security , epistemology , psychiatry , computer science , biometrics
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.