BACKGROUND: To report the results of the @entity37188 gene mutation analysis in a cohort of Chinese @entity1 with cone or @entity6391 (COD or @entity1509 ) and to describe the clinical features observed in @entity1 with molecularly confirmed COD or @entity1509 . METHODS: A total of 74 probands clinically diagnosed with COD or @entity1509 were recruited for genetic analysis; these included 15 unrelated @entity1 with a positive family history consistent with an autosomal dominant pattern of inheritance and 59 unrelated sporadic cases. All probands underwent ophthalmic examinations including best-corrected visual acuity, fundus examination, optical coherence tomography, and electroretinography. Genomic DNA was extracted from venous blood of all @entity1 , and all coding exons and exon-intron boundaries of the @entity37188 gene were screened for mutations by PCR-based DNA sequencing. Restriction fragment length polymorphism analysis and allele-specific PCR analysis were used to validate the substitution in all available family members. RESULTS: Four different @entity37188 missense mutations-three affected codon 838 and one affected codon 849-were identified in nine unrelated probands. Mutation @entity69969 was identified in four probands, while both mutations @entity37579 and @entity69970 were found in two unrelated @entity1 , and mutation @entity69971 was found in one proband. The @entity37188 mutations were found in 47  % of the @entity1 (7/15) with @entity6121 . @entity1 with mutation @entity69970 presented a relatively severe clinical phenotype. CONCLUSION: The @entity37188 mutations were frequent in Chinese families with @entity6121 . All mutations were found in exon 13, which should be given priority during mutation screening analysis.

@entity37188 mutations in a Chinese cohort with XXXX .

@entity1 :: ('9606', 'Species') :: ['participants', 'Patients', 'patients'] @entity37579 :: ('p|SUB|R|838|C', 'ProteinMutation') :: ['p.R838C'] @entity69970 :: ('p|SUB|R|838|P', 'ProteinMutation') :: ['p.R838P'] @entity69971 :: ('p|SUB|T|849|A', 'ProteinMutation') :: ['p.T849A'] @entity6391 :: ('MESH:D012174', 'Disease') :: ['cone-rod dystrophies'] @entity69969 :: ('p|SUB|R|838|H', 'ProteinMutation') :: ['p.R838H'] @entity6121 :: ('MESH:C566719', 'Disease') :: ['autosomal dominant cone or cone-rod dystrophies', 'autosomal dominant cone dystrophy'] @entity37188 :: ('3000', 'Gene') :: ['GUCY2D'] @entity1509 :: ('OMIM:120970', 'Disease') :: ['CORD']
@entity6121 :: (MESH:C566719,Disease) :: ['autosomal dominant cone or cone-rod dystrophies']
