Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].
OBJECTIVE
To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation.


METHODS
Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members.


RESULTS
Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts.


CONCLUSIONS
These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.
Zafer
Emre
E
Department of Obstetrics and Gynecology, Georgetown University, Washington, DC, USA.
Meck
Jeanne
J
Gerrad
Liora
L
Pras
Elon
E
Frydman
Moshe
M
Reish
Orit
O
Avni
Isaac
I
Pras
Eran
E
D002386:Cataract / Q000151:congenital* / Q000196:embryology / Q000235:genetics*; D020090:Chromosome Segregation; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007585:Jews / Q000235:genetics*; D008002:Libya; D010375:Pedigree; D014178:Translocation, Genetic