Identification of Novel Mutations in the LRR-Cap Domain ofC21orf2in Japanese Patients With Retinitis Pigmentosa and Cone–Rod Dystrophy | Zendy

Akiko Suga | Zendy; Atsushi Mizota | Zendy; Mitsuhiro Kato | Zendy; Kazuki Kuniyoshi | Zendy; Kazutoshi Yoshitake | Zendy; William Sultan | Zendy; Masashi Yamazaki | Zendy; Yoshikazu Shimomura | Zendy; Kazuho Ikeo | Zendy; Kazushige Tsunoda | Zendy; Takeshi Iwata | Zendy

Open Access

Identification of Novel Mutations in the LRR-Cap Domain ofC21orf2in Japanese Patients With Retinitis Pigmentosa and Cone–Rod Dystrophy

Author(s) -

Akiko Suga,

Atsushi Mizota,

Mitsuhiro Kato,

Kazuki Kuniyoshi,

Kazutoshi Yoshitake,

William Sultan,

Masashi Yamazaki,

Yoshikazu Shimomura,

Kazuho Ikeo,

Kazushige Tsunoda,

Takeshi Iwata

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-19450

Subject(s) - retinitis pigmentosa , missense mutation , biology , genetics , exome sequencing , retinal degeneration , nonsense mutation , ciliogenesis , mutation , dystrophy , retina , cilium , gene , neuroscience

C21orf2 encodes a ciliary protein related to syndromic and nonsyndromic retinal degeneration. The purpose of this study was to identify novel mutations of C21orf2 associated with syndromic autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) by using whole exome sequencing of a Japanese cohort.

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