| Literature DB >> 28296978 |
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Abstract
[This corrects the article DOI: 10.1371/journal.pone.0169935.].Entities:
Year: 2017 PMID: 28296978 PMCID: PMC5352023 DOI: 10.1371/journal.pone.0174190
Source DB: PubMed Journal: PLoS One ISSN: 1932-6203 Impact factor: 3.240
Breakpoint mapping and sequencing results for each apparently balanced translocation case included in this study.
| Case / phenotype | Translocation junction as estimated by MPS | Junction length | Read-pairs | Translocation breakpoint position as defined by SS | Disrupted gene(s) | Indels (+strand) | Microho- mology | Repetitive elements |
|---|---|---|---|---|---|---|---|---|
| Male with ID, psychomotor delay,epilepsy | chr1:18163342–18163563 | 222bp | 12 | chr1:18163344–18163348 | — | 3bp-AGT del. | T | SINE-MIR-MIRb |
| chr7:99019714–99019855 | 142bp | chr7:99019710–99019714 | 3bp-AGA del. | CC | LINE-L1-L1M5 | |||
| Non-affected mother | chr1:18163366–18163436 | 71bp | 17 | chr1:18163344–18163348 | — | 3bp-AGT del. | T | SINE-MIR-MIRb |
| chr7:99019342–99019746 | 405bp | chr7:99019710–99019714 | 3bp-AGA del. | CC | LINE-L1-L1M5 | |||
| Female with ID | chr7:122515289–122515690 | 402bp | 17 | chr7:122515671–122515672 | — | C | — | |
| chr8:119865523–119866376 | 854bp | chr8:119866044–119866050 | — | 5bp-GTAAA del. | TAA | — | ||
| Non-affected sibling | chr7:122514386–122515726 | 1341bp | 20 | chr7:122515671–122515672 | — | C | — | |
| chr8:119866031–119866086 | 56bp | chr8:119866044–119866050 | — | 5bp-GTAAA del. | TAA | — | ||
| Female with mild to moderate ID | chr4:189742584–189742790 | 207bp | 15 | chr4:189742651–189742656 | — | 4bp-ATCG del. | T | LINE-L2-L2a |
| chr10:43139092–43140045 | 954bp | chr10:43139266–43139272 | — | 5bp-CTGGC del. | — | SINE-Alu-AluSc | ||
| Non-affected sibling | chr4:189742123–189743225 | 1103bp | 26 | chr4:189742651–189742656 | — | 4bp-ATCG del. | T | LINE-L2-L2a |
| chr10:43139186–43139369 | 184bp | chr10:43139266–43139272 | — | 5bp-CTGGC del. | — | SINE-Alu-AluSc | ||
| Non-affected mother | chr4:189742483–189743387 | 905bp | 25 | chr4:189742651–189742656 | — | 4bp-ATCG del. | T | LINE-L2-L2a |
| chr10:43139065–43140359 | 1295bp | chr10:43139266–43139272 | — | 5bp-CTGGC del. | — | SINE-Alu-AluSc | ||
| Male with Polysynda-ctyly, Oral Anomalies | chr1:24738004–24738807 | 804bp | 13 | chr1:24738180–24738181 | — | C | SINE-Alu-AluJr4 | |
| chr20:56177192–56177656 | 465bp | chr20:56177612–56177613 | — | 2bp-GA dupl. | — | — | ||
| Non-affected mother | chr1:24738108–24738220 | 113bp | 15 | chr1:24738180–24738181 | — | C | SINE-Alu-AluJr4 | |
| chr20:56177454–56178424 | 971bp | chr20:56177612–56177613 | — | 2bp-GA dupl. | — | — | ||
Translocation junction and exact breakpoint position as identified by Mate Pair Sequencing (MPS) and Sanger sequencing (SS), respectively, in the affected and non-affected translocation carriers in each family. The number of read-pairs representing each translocation junction, the gene(s) disrupted by each translocation breakpoint as well as insertions/deletions (indels), microhomology and repetitive elements found at the breakpoint sites are indicated. All genomic coordinates are based on the GRCh37/hg19 reference genome assembly. (ID = Intellectual Disability; mat = maternal; bp = base-pair; del. = deletion; dupl. = duplication).