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Novel Compound Heterozygous Mutations in CERKL Cause Autosomal Recessive Retinitis Pigmentosa in a Nonconsanguineous Chinese Family
Zhaohui Tang, MS;
Zhaoxiang Wang, MD;
Zhi Wang, MD;
Tie Ke, PhD;
Qing Kenneth Wang, PhD;
Mugen Liu, PhD
Arch Ophthalmol. 2009;127(8):1077-1078.
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Retinitis pigmentosa (RP) (OMIM 268000) is characterized by night blindness, progressive constriction of the visual fields, and fundus changes, including bony spicule pigmentation. To date, a number of RP loci or genes have been reported.1 One of the autosomal recessive RP (arRP) loci, RP26, was mapped to chromosome 2q31-q33 in 1998. The disease-causing gene at this locus has been recently identified as the CERKL gene (ceramide kinase–like) (GenBank NM_201548), encoding a 532–amino acid protein that shares 29% identity with ceramide kinase.2-3 Only 3 CERKL mutations have been reported, including p.E257X in Spanish families,2, 4 p.P106S in a consanguineous Pakistani family,5 and a splicing mutation in Yemeni Jewish families.6 We now report 2 novel compound heterozygous mutations in CERKL, c.156_157insT and c.758delT, which were found in a nonconsanguineous Chinese family . . . [Full Text of this Article]Methods
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