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N.H. Waseem, A. Ortiz, C. Maubaret, A. Kennan, P. Humphries, S. Daiger, A. Webster, S. Jenkins, A.C. Bird, S.S. Bhattacharya; Identification of Mutations in IMPDH1 in a Cohort of 96 Recessive RP Patients . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5800.
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Mutations identified so far in IMPDH1 results in autosomal dominant form of retinitis pigmentosa. Although IMPDH1 is the predominant isoform in the murine retina, homozygous deletion of IMPDH1 in mice causes only a mild retinopathy. For this reason we screened IMPDH1 in a cohort of 96 autosomal recessive form of RP (arRP).
Exons 1–17 along with the flanking regions were screened by direct sequencing of PCR products. A newly identified 17bp exon between exon 13 and 14 was also screened.
Two heterozygous changes were identified in two individuals. One heterozygous missense change was identified in exon11 (His285Arg) in an arRP patient and a 3bp deletion was observed in exon 2 in a 53year old female. These changes were not present in 192 control DNAs
Gene inversions, deletion and duplications will be missed by the present screening procedure. With this limitation in mind, only two individuals in our cohort of 96 arRP patients carry two heterozygous changes in IMPDH1.
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