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PMID:22219648

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Citation

Wang, H, Chen, X, Dudinsky, L, Patenia, C, Chen, Y, Li, Y, Wei, Y, Abboud, EB, Al-Rajhi, AA, Lewis, RA, Lupski, JR, Mardon, G, Gibbs, RA, Perkins, BD and Chen, R (2011) Exome capture sequencing identifies a novel mutation in BBS4. Mol. Vis. 17:3529-40

Abstract

Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies. The purpose of this study was to identify a novel LCA disease allele or gene and to develop an approach combining genetic mapping with whole exome sequencing.

Links

PubMed PMC3250376

Keywords

Alleles; Animals; Base Sequence; Chromosome Mapping; Consanguinity; Exome; Exons; Female; Genotype; High-Throughput Nucleotide Sequencing; Humans; Infant; Leber Congenital Amaurosis/genetics; Leber Congenital Amaurosis/metabolism; Leber Congenital Amaurosis/pathology; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide; Proteins/genetics; Proteins/metabolism; Retina/metabolism; Retina/pathology; Rhodopsin/metabolism; Saudi Arabia; Zebrafish

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DANRE:E7EXH4

involved_in

GO:0046154: rhodopsin metabolic process

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:E7EXH4

involved_in

GO:0046154: rhodopsin metabolic process

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678,ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:E7EXH4

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:E7EXH4

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000316: genetic interaction evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:E7EXH4

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678

P

Seeded From UniProt

complete

DANRE:E7EXH4

involved_in

GO:0090245: axis elongation involved in somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:E7EXH4

involved_in

GO:0090245: axis elongation involved in somitogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678,ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0046154: rhodopsin metabolic process

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0046154: rhodopsin metabolic process

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678,ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000316: genetic interaction evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0090245: axis elongation involved in somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:F1RBR9

involved_in

GO:0090245: axis elongation involved in somitogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678,ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0046154: rhodopsin metabolic process

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0046154: rhodopsin metabolic process

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678,ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000316: genetic interaction evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0090245: axis elongation involved in somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete

DANRE:Q05AN5

involved_in

GO:0090245: axis elongation involved in somitogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

RefSeq:NM_001252678,ZFIN:ZDB-MRPHLNO-060208-1

P

Seeded From UniProt

complete


See also

References

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