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Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Anneke I den Hollander
1 ,
Irma Lopez ,
Suzanne Yzer ,
Marijke N Zonneveld ,
Irene M Janssen ,
Tim M Strom ,
Jayne Y Hehir-Kwa ,
Joris A Veltman ,
Maarten L Arends ,
Thomas Meitinger ,
Maria A Musarella ,
L Ingeborgh van den Born ,
Gerald A Fishman ,
Irene H Maumenee ,
Klaus Rohrschneider ,
Frans P M Cremers ,
Robert K Koenekoop
Dec 2007
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Abstract
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) cause severe visual impairment early in life. Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes.