Abstract
Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 801-811 |
| Number of pages | 11 |
| Journal | American Journal of Human Genetics |
| Volume | 54 |
| Issue number | 5 |
| State | Published - 1994 |
| Externally published | Yes |
Fingerprint
ASJC Scopus subject areas
- Genetics
Cite this
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. / Martha, Aruna; Ferrell, Robert E.; Mintz-Hittner, Helen; Lyons, Leslie A; Saunders, Grady F.
In: American Journal of Human Genetics, Vol. 54, No. 5, 1994, p. 801-811.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
AU - Martha, Aruna
AU - Ferrell, Robert E.
AU - Mintz-Hittner, Helen
AU - Lyons, Leslie A
AU - Saunders, Grady F.
PY - 1994
Y1 - 1994
N2 - Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype.
AB - Aniridia, an autosomal dominant ocular disorder characterized by iris hypoplasia, results from mutations in the PAX6 gene, which encodes paired box and homeobox motifs. In this report we describe five new mutations in the paired box region of the human PAX6 gene that are associated with aniridia. The paired box mutations that we detected were in both familial (three) and sporadic (two) cases. All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype.
UR - http://www.scopus.com/inward/record.url?scp=0028294152&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028294152&partnerID=8YFLogxK
M3 - Article
C2 - 7909985
AN - SCOPUS:0028294152
VL - 54
SP - 801
EP - 811
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 5
ER -