Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa

S G Jacobson; A V Cideciyan; R A Bascom; Vesna Ponjavic; Magnus Abrahamson; Ulf Ekström; Sten Andréasson; Berndt Ehinger; V C Sheffield; R R McInnes; E M Stone

Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa

Journal article

Peer reviewed

Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa

S G Jacobson, A V Cideciyan, R A Bascom, Vesna Ponjavic, Magnus Abrahamson, Ulf Ekström, Sten Andréasson, Berndt Ehinger, V C Sheffield, R R McInnes, …

Digital journal of ophthalmology, Vol.5(6)

1999

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Abstract

Two families with retinitis pigmentosa showed inheritance of an Arg-16-His ROM1 gene mutation with either an Arg-13-Trp RDS mutation or an Arg-135-Trp RHO mutation. The phenotypes of double and single heterozygotes were determined to examine the hypothesis that digenic inheritance may increase disease expression. In the family with ROM1 and RDS mutations, single heterozygotes were normal but one double heterozygote showed severe RP. Two other double heterozygotes, however, were normal by clinical and retinal function tests. In the family with ROM1 and RHO mutations, single heterozygotes with the RHO mutation all manifested RP, while a single heterozygote for the ROM1 mutation was normal. Disease severity was comparable in double heterozygotes and single heterozygotes HAVING the RHO mutation. We conclude that the Arg-16-His ROM1 gene mutation is non-pathogenic in the single heterozygous state, and there is no consistent evidence of digenic augmentation of pathogenicity in double heterozygotes carrying the Arg-16-His ROM1 mutation with either the benign Arg-13-Trp RDS mutation or the disease-causing Arg-135-Trp RHO mutation.

Clinical Medicine

Medicinal Chemistry

Ophthalmology

Retinitis Pigmentosa

Basic Medicine

Medical and Health Sciences

Medicin och hälsovetenskap

histopathology

Klinisk medicin

Läkemedelskemi

retina

Oftalmologi

Medicinska och farmaceutiska grundvetenskaper

Farmakologi och toxikologi

Pharmacology and Toxicology

Details

Title: Subtitle: Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa
Creators: S G Jacobson
A V Cideciyan
R A Bascom
Vesna Ponjavic - Ophthalmology, Lund
Magnus Abrahamson - Division of Clinical Chemistry and Pharmacology
Ulf Ekström - Division of Clinical Chemistry and Pharmacology
Sten Andréasson - Ophthalmology, Lund
Berndt Ehinger - Ophthalmology, Lund
V C Sheffield - University of Iowa, Stead Family Department of Pediatrics
R R McInnes
E M Stone - University of Iowa, Ophthalmology and Visual Sciences
Resource Type: Journal article
Publication Details: Digital journal of ophthalmology, Vol.5(6)
ISSN: 1542-8958
eISSN: 1542-8958
Language: English
Date published: 1999
Academic Unit: Medical Genetics and Genomics; Ophthalmology and Visual Sciences; Iowa Neuroscience Institute; Stead Family Department of Pediatrics
Record Identifier: 9984072063702771

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