Norrie disease resulting from a gene deletion: clinical features and DNA studies

D Donnai; R C Mountford; A P Read

doi:10.1136/jmg.25.2.73

Norrie disease resulting from a gene deletion: clinical features and DNA studies

J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73.

Authors

D Donnai¹, R C Mountford, A P Read

Affiliation

¹ Department of Medical Genetics, St Mary's Hospital, Manchester.

Abstract

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Autoradiography
Blindness / genetics*
Child, Preschool
Chromosome Deletion*
Genetic Linkage*
Genetic Markers*
Humans
Infant
Intellectual Disability / genetics
Male
Muscular Atrophy / genetics
Pedigree
Syndrome
X Chromosome / ultrastructure*

Substances

Genetic Markers