| Literature DB >> 29065517 |
Kevin Gustafson1, Jacque L Duncan2, Pooja Biswas3,4, Angel Soto-Hermida5, Hiroko Matsui6, David Jakubosky7, John Suk8, Amalio Telenti9, Kelly A Frazer10,11, Radha Ayyagari12.
Abstract
Following publication of our article [1], we identified discrepancies between the pedigree shown in Figure 1 and the rest of the text.[...].Entities:
Keywords: na
Year: 2017 PMID: 29065517 PMCID: PMC5664136 DOI: 10.3390/genes8100286
Source DB: PubMed Journal: Genes (Basel) ISSN: 2073-4425 Impact factor: 4.096
Figure 1Pedigree RF.L.11.10 and segregation of mutations in KIZ and C21orf2 with recessive RD. I:1–5 represents elder siblings (three unaffected males and two unaffected females) of I:6. (-) Indicates presence of wild type allele where as V1, V2 and V3 indicate the mutant alleles. The homozygous nonsense mutation p.Arg76* in KIZ (V1) segregated with disease in one branch of the family with affected members II:1 and II:3. A 1.1Kb homozygous deletion V2 (Chr21: 45,755,728–45,756,862) in C21orf2 gene was observed in II:4 from a different branch of the pedigree RF.L.11.10. An additional 30Kb heterozygous deletion V3 (Chr12: 1,949,399–1,980,050) in CACNA2D4 gene was also observed in the affected member II:4.