Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness
a Wellcome Ocular Genetics Unit,
Trinity College Dublin, Ireland, b Research Foundation,
Eye and Ear Hospital, Dublin, Ireland, c The
Adelaide Hospital, Dublin, Ireland
Correspondence to: Paul F Kenna, Wellcome Ocular Genetics Unit, Biotechnology Institute, Trinity College, Lincoln Gate, Dublin 2, Ireland.
Accepted for publication 15
November 1996
AIMS/BACKGROUND
To characterise clinically a large
kindred segregating retinitis pigmentosa and sensorineural hearing
impairment in an autosomal dominant pattern and perform genetic linkage
studies in this family. Extensive linkage analysis in this family had
previously excluded the majority of loci shown to be involved in the
aetiologies of RP, some other forms of inherited retinal degeneration,
and inherited deafness.
METHODSMembers of the family were subjected to
detailed ophthalmic and audiological assessment. In addition, some
family members underwent skeletal muscle biopsy, electromyography, and
electrocardiography. Linkage analysis using anonymous microsatellite
markers was performed on DNA samples from all living members of the pedigree.
RESULTSPatients in this kindred have a
retinopathy typical of retinitis pigmentosa in addition to a hearing
impairment. Those members of the pedigree examined demonstrated a
subclinical myopathy, as evidenced by abnormal skeletal muscle
histology, electromyography, and electrocardiography. LOD scores of
Zmax = 3. 75 (
= 0. 10), Zmax = 3. 41 ( = 0. 10), and Zmax = 3. 25 ( = 0. 15) respectively were obtained with the markers D9S118,
D9S121, and ASS, located on chromosome 9q34-qter, suggesting that the
causative gene in this family may lie on the long arm (q) of chromosome 9.
CONCLUSIONSThese data indicate that the gene
responsible for the phenotype in this kindred is located on chromosome
9q. These data, together with evidence that a murine deafness gene is
located in a syntenic area of the mouse genome, should direct the
research community to consider this area as a candidate region for
retinopathy and/or deafness genes.
© 1997 by British Journal of Ophthalmology
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