Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Hollander, Anneke I. den; Koenekoop, Robert K.; Mohamed, Moin; Arts, Heleen H.; Boldt, Karsten; Towns, Katherine V.; Sedmak, Tina; Beer, Monika; Nagel-Wolfrum, Kerstin; McKibbin, Martin; Dharmaraj, Sharola; López, Irma; Ivings, Lenka; Williams, G.; Springell, Kelly; Woods, C. Geoff; Jafri, Hussain; Rashid, Yasmin; Strom, Tim M.; Zwaag, Bert van der; Gosens, Ilse; Kersten, Ferry F.J.; Wijk, Erwin van; Veltman, Joris A.; Zonneveld, Marijke N.; Beersum, Sylvia E. C. van; Maumenee, Irene H.; Wolfrum, Uwe; Cheetham, Michael E.; Ueffing, Marius; Cremers, Frans P.M.; Inglehearn, Chris F.; Roepman, Ronald

doi:10.1038/ng2066

Cited by 166 publications

(152 citation statements)

References 30 publications

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“…With the exception of the Pakistani mutation reported previously in three families [den Hollander et al, 2007], all mutations were private, confirming the above notion.…”

Section: Discussionsupporting

confidence: 88%

“…Hollander et al, 2007 deletion in the non coding region is not represented) and in the present study, respectively.…”

Section: Mutation Nomenclaturementioning

confidence: 42%

“…The seven exons encoding lebercilin and the region containing the g. [-19612_-1805]del1598 mutation identified in the original LCA5 family (Dharmaraj et al, 2000;den Hollander et al, 2007) were screened for mutations in 179 unrelated LCA patients. Three different homozygous mutations were identified in three unrelated consanguineous families originating from Maghreb: c.103C>T, p.Arg35X (Family 1, Algeria); c.610C>T, p.Gln204X (Family 2, Algeria); c. 1186G>T; p.Glu396X (Family 3, Morocco; Fig.…”

Section: Resultsmentioning

confidence: 99%

“…1A). They were neither found in a control panel of 96 unrelated healthy individuals nor in the original publication reporting LCA5 mutations in LCA [den Hollander et al, 2007;Fig. 1A].…”

Section: Resultsmentioning

confidence: 99%

“…The expression of CEP290 in ciliated cells gave additional support to the emerging role of ciliary dysfunction in isolated retinal dystrophies including LCA (RPGRIP1, MIM# 605446), retinitis pigmentosa (RPGR, MIM# 312610; RP1, MIM# 603937) and in syndromic retinal degenerations such as Bardet-Biedl syndrome (BBS, MIM# 209900), Senior-Loken syndrome (SNLS, MIM# 266900, MIM# 606995, MIM# 606996, MIM# 610189, MIM# 609254, MIM# 609237) and Joubert syndrome (JBTS, MIM# 608629, MIM# 609583, MIM# 610188, MIM# 610688). This notion was recently strengthen by the identification of LCA-associated mutations in the LCA5 gene that is expressed in the connecting cilium of photoreceptors and microtubules [den Hollander et al, 2007].…”

Section: Introductionmentioning

confidence: 96%

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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

et al. 2007

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Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone-rod dystrophy (Type I, 60 % of LCA) while the seven remaining genes account for 32% of patients and are responsible for a progressive yet severe rod-cone dystrophy (Type II, 40 % of LCA ). Recently, mutations in LCA5, encoding the ciliary protein lebercilin, were reported to be a rare cause of leber congenital amaurosis. The purpose of this study was to evaluate the involvement of this novel gene and to look for genotype-phenotype correlations. Here we report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in our series (3/179; 1.7%). Besides, we suggest that the phenotype of these patients affected with a particularly severe form of LCA type II may represent a continuum with LCA type I.

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“…With the exception of the Pakistani mutation reported previously in three families [den Hollander et al, 2007], all mutations were private, confirming the above notion.…”

Section: Discussionsupporting

confidence: 88%

“…Hollander et al, 2007 deletion in the non coding region is not represented) and in the present study, respectively.…”

Section: Mutation Nomenclaturementioning

confidence: 42%

Section: Resultsmentioning

confidence: 99%

“…1A). They were neither found in a control panel of 96 unrelated healthy individuals nor in the original publication reporting LCA5 mutations in LCA [den Hollander et al, 2007;Fig. 1A].…”

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

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