Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
OBJECTIVE
To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.


METHODS
The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).


RESULTS
Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects.


CONCLUSIONS
No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.
Aijaz
Saima
S
Institute of Ophthalmology, University College London, United Kingdom.
Clark
Brian J
BJ
Williamson
Kathleen
K
van Heyningen
Veronica
V
Morrison
Danny
D
Fitzpatrick
David
D
Collin
Richard
R
Ragge
Nicola
N
Christoforou
Andrea
A
Brown
Alison
A
Hanson
Isabel
I
D000328:Adult; D000853:Anophthalmos / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D003103:Coloboma / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005784:Gene Amplification; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D015534:Trans-Activators / Q000235:genetics*
D005136:Eye Proteins; D018398:Homeodomain Proteins; C491945:SIX6 protein, human; D015534:Trans-Activators