PubMed ID | Description |
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22495309 | O'Roak et al (2012) found a de novo nonsense change in CUL3 by whole exome sequencing in a patient with autism. No additional clinical information was provided and no additional de novo variants were listed in this individual. The change was in exon 6 of the 16 CUL3 exons. |
22914163 | Kong et al (2012) report a de novo nonsense variant in exon 12 of the CUL3 gene in a patient with an autism spectrum disorder. Variants were detected by whole genome sequencing. No additional clinical information was provided. |
27824329 | Wang et al (2016) sequenced 189 genes that they defined as autism risk genes in a cohort of probands with autism spectrum disorders. They found a de novo G>T change at the first position of the donor site in intron 8 of the CUL3 gene. RNA studies were not performed. |
PMID 22266938: Boyden et al (2012) found that variants, including cannoncial splice variants clustering at the intron 8 splice acceptor and the intron 9 splice donor, in CUL3 cause Pseudohypoaldosteronism type IIE. However, all these mutations result in an in-frame deletion of exon 9. PMID 23665959: Zaidi et al (2013) identified a de novo frameshift variant in exon 4 of CUL3 in a patient with congenital heart disease. The neurodevelopmental profile of the patient is unknown. Variants were detected by whole exome sequencing. PMID 25363760: De Rubeis et al (2014) identified a nonsense variant and a splice variant (inheritance unknown for both) in a cohort of patients with autism.