PMID- 36588754
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230602
IS  - 1661-8769 (Print)
IS  - 1661-8777 (Electronic)
IS  - 1661-8769 (Linking)
VI  - 13
IP  - 5
DP  - 2022 Dec
TI  - Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation 
      t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b.
PG  - 370-380
LID - 10.1159/000522011 [doi]
AB  - INTRODUCTION: The accurate detection of breakpoint regions of disease-associated 
      chromosomal rearrangements helps understand the molecular mechanisms and identify 
      the risks involved with disrupted genes. METHODS: In this study, a girl with 
      growth retardation is characterized using positional cloning and genome 
      sequencing. The techniques include fluorescence in situ hybridization (FISH) with 
      paint (WCP) and bacterial-artificial chromosomes (BAC) probes, PCR, real-time 
      PCR, and short and long-read sequencing. RESULTS: The translocation was 
      identified by GTG banding and confirmed by WCP FISH. Microarray ruled out the 
      involvement of other copy number variations except for 6 homozygous regions which 
      are not disease-causing variants. Fine mapping with FISH showed split signals 
      with BAC clone RP11-312A3. Genome sequencing of short-read with an average 30x 
      depth and long-read sequencing technology with a 3.8x coverage identified both 
      breakpoints, confirmed by Sanger sequencing, that showed microhomology. The 
      breakpoint at 1p and 12p regions disrupted EYA3 and EFCAB4B genes. Expression 
      analysis of EYA3 showed a 7-fold increase, suggesting the formation of a fusion 
      gene with EFCAB4B. EYA3 is involved in skeleton development, and EFCAB4B plays a 
      role in calcium metabolism, which may be relevant for the patient's phenotype. 
      CONCLUSION: The systematic application of genome techniques to translocations and 
      their advantages is discussed.
CI  - Copyright (c) 2022 by S. Karger AG, Basel.
FAU - Dutta, Usha R
AU  - Dutta UR
AD  - Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 
      India.
FAU - Bhattacherjee, Amrita
AU  - Bhattacherjee A
AD  - Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 
      India.
FAU - Bahal, Ashish
AU  - Bahal A
AD  - Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 
      India.
FAU - Posanapally, Laxmi P
AU  - Posanapally LP
AD  - Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 
      India.
FAU - Lone, Kaisar A
AU  - Lone KA
AD  - Laboratory of Cell Cycle Regulation, Hyderabad, India.
FAU - Bathula, Siddardha
AU  - Bathula S
AD  - Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 
      India.
FAU - Dalal, Ashwin
AU  - Dalal A
AD  - Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 
      India.
LA  - eng
PT  - Journal Article
DEP - 20220316
PL  - Switzerland
TA  - Mol Syndromol
JT  - Molecular syndromology
JID - 101525192
PMC - PMC9801327
OTO - NOTNLM
OT  - Balanced reciprocal translocation
OT  - FISH
OT  - Long-read sequencing
OT  - Paired-end sequencing
OT  - Short stature
COIS- The authors declare no conflict of interest.
EDAT- 2023/01/03 06:00
MHDA- 2023/01/03 06:01
PMCR- 2023/06/01
CRDT- 2023/01/02 03:40
PHST- 2021/02/01 00:00 [received]
PHST- 2022/01/17 00:00 [accepted]
PHST- 2023/01/02 03:40 [entrez]
PHST- 2023/01/03 06:00 [pubmed]
PHST- 2023/01/03 06:01 [medline]
PHST- 2023/06/01 00:00 [pmc-release]
AID - msy-0013-0370 [pii]
AID - 10.1159/000522011 [doi]
PST - ppublish
SO  - Mol Syndromol. 2022 Dec;13(5):370-380. doi: 10.1159/000522011. Epub 2022 Mar 16.