DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

Kroes, Hester Y.; Zon, Patrick H.A. van; Putte, Dietje Fransen van de; Nelen, Marcel; Nievelstein, Rutger-Jan; Wittebol–Post, D.; Nieuwenhuizen, Onno van; Mancini, Grazia M.S.; Knaap, Marjo S. van der; Kwee, M. L.; Maas, Saskia M.; Cobben, Jan Maarten; Nef, Jacques E.E. De; Lindhout, Dick; Sinke, Richard J.

doi:10.1016/j.ejmg.2007.10.001

Cited by 34 publications

(48 citation statements)

References 32 publications

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“…The missense mutation Y218C was reported initially, whereas another mutation was identified as a causative mutation of JBS in previous studies. 24 However, the proband showed typical RP phenotypes, without any additional manifestation of JBS. This result indicates that AHI is a novel candidate gene for nonsyndromic RP.…”

Section: Discussionmentioning

confidence: 93%

“…The missense mutation Y218C was novel, and another mutation was reported previously as one causing JBS. 24 The novel mutation was predicted in silico to be strongly pathogenic, with an amino acid change in a highly conserved region (Supplementary Figure S3 online). Interestingly, the proband showed only a typical RP phenotype (Supplementary Figure S3 online) without systemic manifestation.…”

Section: Identification Of Ahi1 As a Novel Candidate Gene For Nonsyndmentioning

confidence: 99%

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Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

Huang

et al. 2015

Genetics in Medicine

183

126

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Purpose: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have not been clearly defined, and there is limited information on genotype-phenotype correlations. The purpose of this study was to elucidate the mutational spectrum and genotype-phenotype correlations of IRD. Methods:We developed a targeted panel of 164 known retinal disease genes, 88 candidate genes, and 32 retina-abundant microRNAs, used for exome sequencing. A total of 179 Chinese families with IRD were recruited. Results:In 99 unrelated patients, a total of 124 mutations in known retinal disease genes were identified, including 79 novel mutations (detection rate, 55.3%). Moreover, novel genotype-phenotype correlations were discovered, and phenotypic trends noted. Three cases are reported, including the identification of AHI1 as a novel candidate gene for nonsyndromic retinitis pigmentosa. Conclusion:This study revealed novel genotype-phenotype correlations, including a novel candidate gene, and identified 124 genetic defects within a cohort with IRD . The identification of novel genotype-phenotype correlations and the spectrum of mutations greatly enhance the current knowledge of IRD phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments of IRD patients.

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Section: Discussionmentioning

confidence: 93%

Section: Identification Of Ahi1 As a Novel Candidate Gene For Nonsyndmentioning

confidence: 99%

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

Huang

et al. 2015

Genetics in Medicine

183

126

View full text Add to dashboard Cite

show abstract

“…3 The other allegedly RP-associated variant reported by Huang et al, p.Y218C, is described as being "located in a highly conserved region. " This claim is based on a peptide alignment with mammals only rather than with nonmammalian species and is therefore not convincing.…”

mentioning

confidence: 99%

“…This may, as demonstrated by rare AHI1 truncations without clinical consequences, 3 pose a challenge. However, in the case of the two AHI1 variants described by Huang et al, the evidence-particularly their high frequencies in the general population-calls their pathogenicity into question.…”

mentioning

confidence: 99%

“…2 We considered the two variants as damaging for the following reasons. (i) The first variant, E1086G, was reported as a known disease mutation in a previous study 3 and in the RetinoGenetics database 4 as well as the Human Gene Mutation Database (CM080033), the major database for human mutation repositories. 5 We also reexamined the pathogenicity using multiple other databases.…”

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confidence: 99%

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