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a The Children's
Mercy Hospital Vision Sciences Laboratory, 2401 Gillham Road, Kansas
City, MO 64108, USA, b Section of Ophthalmology, The Children's Mercy
Hospital, Kansas City, MO, USA, c Section of Rehabilitation Medicine, The
Children's Mercy Hospital, Kansas City, MO, USA, d Section
of Genetics, The Children's Mercy Hospital, Kansas City, MO, USA, e The Eye Foundation of Kansas City, University of
Missouri School of Medicine, Kansas City, MO, USA
Correspondence to: Dr Fitzgerald.
Received 24 June 1998;
Revised version accepted for publication 24 August 1998
PURPOSE
Mutations in the dystrophin
gene result in Duchenne muscular dystrophy (DMD). DMD is associated
with an abnormal electroretinogram (ERG) if the mutation disrupts the
translation of retinal dystrophin (Dp260). Our aim was to determine if
incomplete ERG abnormalities would be associated with heterozygous
carriers of dystrophin gene mutations.
METHODSGanzfeld ERGs were obtained
under scotopic and photopic testing conditions from a family which
includes the heterozygous maternal grandmother, the heterozygous
mother, and her children, two affected boys and dizygotic twin sibs, an
unaffected male and heterozygous female. Southern blot analyses were
done to characterise the dystrophin mutation.
RESULTSThe dystrophin gene was
found to contain a deletion encompassing exon 50. The ERGs in the two
affected boys were abnormal, consistent with the DMD ERG phenotype.
Serial ERGs of the heterozygous females were abnormal; however, they
were less severely affected than the DMD boys. The ERG of the female
sib showed a greater abnormality than her mother and maternal
grandmother. The unaffected twin had a normal ERG.
CONCLUSIONSThe ERG shows
abnormalities associated with carrier status in this family with a
single exon deletion. A large study of confirmed obligate carriers is
planned to clarify further the value of the ERG in detecting female
heterozygous carriers of dystrophin gene mutations.
This article has been cited by other articles:
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  C. Dalloz, R. Sarig, P. Fort, D. Yaffe, A. Bordais, T. Pannicke, J. Grosche, D. Mornet, A. Reichenbach, J. Sahel, et al. Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina Hum. Mol. Genet., July 1, 2003; 12(13): 1543 - 1554. [Abstract] [Full Text] [PDF]
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 T Claudepierre, C Dalloz, D Mornet, K Matsumura, J Sahel, and A Rendon Characterization of the intermolecular associations of the dystrophin-associated glycoprotein complex in retinal Muller glial cells J. Cell Sci., January 10, 2000; 113(19): 3409 - 3417. [Abstract] [PDF]
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