BACKGROUND: @entity751 and @entity21160 are autosomal recessively inherited ciliopathies with common characteristics of @entity28 , @entity6 , and @entity1939 . @entity751 is caused by a mutation in the @entity27727 gene, and @entity21160 is caused by mutations in @entity11889 -16 genes. Herein we report genetically confirmed cases of @entity751 and @entity21160 in Korea using whole exome sequencing. METHODS: Exome capture was done using SureSelect @entity1 All Exon Kit V4+UTRs (Agilent Technologies). HiSeq2000 system (Illumina) was used for massive parallel sequencing. Sanger sequencing was used for genotype confirmation and familial cosegregation analysis. RESULTS: A 21-year old Korean @entity1 was clinically diagnosed with @entity751 . She had @entity6 , @entity1939 , @entity28 , severe insulin resistance, and @entity393 . Whole exome sequencing revealed a nonsense mutation in exon 10 of @entity27727 ( @entity67032 , @entity67033 ) and a seven base-pair deletion resulting in frameshift mutation in exon 8 ( @entity67034 , @entity67035 ). A 24-year-old Korean @entity1 had @entity21160 with @entity6 , @entity1939 , @entity28 , and a history of @entity5767 . Whole exome sequencing revealed a nonsynonymous mutation in exon 11 of the @entity11889 gene ( @entity67036 , @entity67037 ) and mutation at the normal splicing recognition site of exon 7 of the @entity11889 gene ( @entity67038 ). CONCLUSION: We found novel compound heterozygous mutations of @entity751 and @entity21160 using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated @entity6 .

Identification of Two Cases of Ciliopathy-Associated XXXX and Their Mutation Analysis Using Whole Exome Sequencing.

@entity1 :: ('9606', 'Species') :: ['woman', 'man', 'Human'] @entity21160 :: ('MESH:D020788', 'Disease') :: ['Bardet-Biedl syndrome'] @entity6 :: ('MESH:D003920', 'Disease') :: ['diabetes'] @entity28 :: ('MESH:D009765', 'Disease') :: ['obesity'] @entity27727 :: ('7840', 'Gene') :: ['ALMS1'] @entity67035 :: ('p|DEL|2137_2139|', 'ProteinMutation') :: ['p.2137_2139del'] @entity67032 :: ('c|SUB|C|8776|T', 'DNAMutation') :: ['c.8776C>T'] @entity11889 :: ('582', 'Gene') :: ['BBS1'] @entity1939 :: ('MESH:D001766', 'Disease') :: ['blindness'] @entity67033 :: ('p|SUB|R|2926|X', 'ProteinMutation') :: ['p.R2926X'] @entity5767 :: ('MESH:D017689', 'Disease') :: ['polydactyly'] @entity67034 :: ('c|DEL|6410_6416|', 'DNAMutation') :: ['c.6410_6416del'] @entity67036 :: ('c|SUB|A|1061|G', 'DNAMutation') :: ['c.1061A>G'] @entity751 :: ('MESH:D013577', 'Disease') :: ['Alstr  m syndrome'] @entity67038 :: ('c|SUB|G|519-1|T', 'DNAMutation') :: ['c.519-1G>T'] @entity67037 :: ('p|SUB|E|354|G', 'ProteinMutation') :: ['p.E354G'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss']
@entity6 :: (MESH:D003920,Disease) :: ['Diabetes']
