Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. Recently, mutations of the photoreceptor cell-specific ATP binding transporter gene (ABCR) have been reported in Stargardt disease. Here, we report on the screening of the whole coding sequence of the ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations truncating the ABCR protein consistently led to STGD. Conversely, all mutations identified in FFM were missense mutations affecting uncharged amino acids. These results provide the first genotype-phenotype correlations in ABCR gene mutations.
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France. MUNNICH3@CIT12.FR
J M
JM
Rozet
S
S
Gerber
E
E
Souied
I
I
Perrault
S
S
Châtelin
I
I
Ghazi
C
C
Leowski
J L
JL
Dufier
A
A
Munnich
J
J
Kaplan
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D009154:Mutation; D012374:Rod Cell Outer Segment / Q000378:metabolism*
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters