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Isolation of a candidate gene for choroideremia.

ABSTRACT: Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 males with isolated choroideremia. Nonetheless, the cDNA does detect reduced or absent levels of mRNA in three-quarters of male patients with an apparently intact gene. These data support the hypothesis that this cDNA represents the gene in which mutations cause choroideremia.

SUBMITTER: Merry DE

PROVIDER: S-EPMC48611 | biostudies-other | 1992 Mar

REPOSITORIES: biostudies-other

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Isolation of a candidate gene for choroideremia.

Merry D E DE Jänne P A PA Landers J E JE Lewis R A RA Nussbaum R L RL

Proceedings of the National Academy of Sciences of the United States of America 19920301 6

Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 ma ...[more]

PMID: 1549574

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