Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability (original) (raw)

“…Because HLS is now known as a ciliopathy, we then combined a targeted capture strategy for candidate ciliary genes with next-generation sequencing, as described previously, by using DNA from fetus II:3. 6,7 In brief, ciliary exome-targeted sequencing and bioinformatics filtering were conducted with a Custom SureSelect Capture Kit (Agilent Technologies) targeting 4.5 Mb of 20,168 exons (1,221 ciliary candidate genes). Agilent SureSelect libraries were prepared from 3 mg of genomic DNA sheared with a Covaris S2 Ultrasonicator according to manufacturer's instructions.…”

mentioning

“…Because HLS is now known as a ciliopathy, we then combined a targeted capture strategy for candidate ciliary genes with next-generation sequencing, as described previously, by using DNA from fetus II:3. 6,7 In brief, ciliary exome-targeted sequencing and bioinformatics filtering were conducted with a Custom SureSelect Capture Kit (Agilent Technologies) targeting 4.5 Mb of 20,168 exons (1,221 ciliary candidate genes). Agilent SureSelect libraries were prepared from 3 mg of genomic DNA sheared with a Covaris S2 Ultrasonicator according to manufacturer's instructions.…”

mentioning

“…Similarly, Sclt1 is a TF protein required for ciliary assembly (Tanos et al 2013). Mutations in two other TF genes, CEP164 and CEP83, can cause nephronophthisis (NPHP), a cystic kidney disease, sometimes accompanied by other signs such as intellectual disability (Chaki et al 2012; Failler et al 2014). Both proteins are required for ciliogenesis and Cep164 can also participate in the DNA damage response, a function it can share with other NPHP proteins (Graser et al 2007; Chaki et al 2012; Tanos et al 2013; Daly et al 2016).…”

Section: Ciliary Gate Diseasesmentioning

“…Mutations in CEP164 (also called NPHP15) and CEP83 (also called NPHP18) cause nephronophthisis-related ciliopathies (NPHP-RC) [68, 69]. SCLT1 is mutated in patients with orofaciodigital syndrome (OFD) type IX [70], and mutations in TTBK2 cause neurodegenerative disease spinocerebellar ataxia type 11 [37].…”

Section: Tight Connection Between Tfs and Ciliopathiesmentioning