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© 1993 Oxford University Press

RESEARCH-ARTICLE

PAX6 mutations in aniridia

Isabel M.Hanson*, Anne Seawright, Karen Hardman, Shirley Hodgson1, Dmitri Zaletayev2, Gyorgy Fekete3 and Veronica van Heyningen

MRC Human Genetics Unit, Western General Hospital Crewe Road, Edinburgh EH4 2XU 1Division of Medical Genetics, Guy's Hospital St Thomas Street, London SE1 9RT, UK 2Institute of Medical Genetics, Academy of Medical and Molecular Genetics Moskvorechie Street 1, 115478, Moscow, Russia 3Department of Paediatrics, Semmelwels University Medical School Tuzolto utca 7–9, Budapest IX, H-109, Hungary

*To whom correspondence should be addressed

Received March 17, 1993; Revised April 30, 1993; Accepted April 30, 1993

Aniridia is a congenital malformation of the eye, chiefly characterised by Iris hypoplasla, which can cause blindness. The PAX6 gene was Isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions. Subsequently PAX6 Intragenic mutations were demonstrated In Smalleye, a mouse mutant which is an animal model for anirldia, and six human anlridia patients. In this paper we describe four additional PAX6 point mutations in anlridia patients, both sporadic and farnillal. These mutations highlight regions of the gene which are essential for normal PAX6 function. In addition, the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of anlridia.


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