PMID- 36187226
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221004
IS  - 2666-2477 (Electronic)
IS  - 2666-2477 (Linking)
VI  - 3
IP  - 4
DP  - 2022 Oct 13
TI  - The past, present, and future for constitutional ring chromosomes: A report of 
      the international consortium for human ring chromosomes.
PG  - 100139
LID - 10.1016/j.xhgg.2022.100139 [doi]
LID - 100139
AB  - Human ring chromosomes (RCs) are rare diseases with an estimated newborn 
      incidence of 1/50,000 and an annual occurrence of 2,800 patients globally. Over 
      the past 60 years, banding cytogenetics, fluorescence in situ hybridization 
      (FISH), chromosome microarray analysis (CMA), and whole-genome sequencing (WGS) 
      has been used to detect an RC and further characterize its genomic alterations. 
      Ring syndrome featuring sever growth retardation and variable intellectual 
      disability has been considered as general clinical presentations for all RCs due 
      to the cellular losses from the dynamic mosaicism of RC instability through 
      mitosis. Cytogenomic heterogeneity ranging from simple complete RCs to complex 
      rearranged RCs and variable RC intolerance with different relative frequencies 
      have been observed. Clinical heterogeneity, including chromosome-specific 
      deletion and duplication syndromes, gene-related organ and tissue defects, cancer 
      predisposition to different types of tumors, and reproductive failure, has been 
      reported in the literature. However, the patients with RCs reported in the 
      literature accounted for less than 1% of its occurrence. Current diagnostic 
      practice lacks laboratory standards for analyzing cellular behavior and genomic 
      imbalances of RCs to evaluate the compound effects on patients. 
      Under-representation of clinical cases and lack of comprehensive diagnostic 
      analysis make it a challenge for evidence-based interpretation of 
      clinico-cytogenomic correlations and recommendation of follow-up clinical 
      management. Given recent advancements in genomic technologies and organized 
      efforts by international collaborations and patient advocacy organizations, the 
      prospective of standardized cytogenomic diagnosis and evidence-based clinical 
      management for all patients with RCs could be achieved at an unprecedented global 
      scale.
CI  - (c) 2022 The Authors.
FAU - Li, Peining
AU  - Li P
AD  - Clinical Cytogenetics Laboratory, Department of Genetics, Yale School of 
      Medicine, New Haven, CT, USA.
FAU - Dupont, Barbara
AU  - Dupont B
AD  - Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA.
FAU - Hu, Qiping
AU  - Hu Q
AD  - Department of Cell Biology and Genetics, Institute of Basic Medicine, Guangxi 
      Medical University, Nanning, Guangxi, China.
FAU - Crimi, Marco
AU  - Crimi M
AD  - Ring 14 International, Via Santa Maria Alla Porta 2, 20123 Milano, Italy.
AD  - Kaleidos SCS, Scientific Office, Via Moretti Andrea 20, 24121 Bergamo, Italy.
FAU - Shen, Yiping
AU  - Shen Y
AD  - Division of Genetics and Genomics, Boston Children's Hospital, Department of 
      Neurology, Harvard Medical School, Boston, MA, USA.
FAU - Lebedev, Igor
AU  - Lebedev I
AD  - Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk 
      National Research Medical Center of the Russian Academy of Sciences, Tomsk 
      634050, Russia.
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, 07747 Jena, Germany.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20220910
PL  - United States
TA  - HGG Adv
JT  - HGG advances
JID - 101772885
PMC - PMC9519620
OTO - NOTNLM
OT  - cellular reprogramming
OT  - chromosome microarray analysis
OT  - chromosome therapy
OT  - clinical heterogeneity
OT  - constitutional ring chromosomes
OT  - cytogenomic heterogeneity
OT  - dynamic mosaicism
OT  - patient advocacy organizations
OT  - ring syndrome
OT  - whole-genome sequencing
COIS- The authors declare no competing interests.
EDAT- 2022/10/04 06:00
MHDA- 2022/10/04 06:01
PMCR- 2022/09/10
CRDT- 2022/10/03 04:48
PHST- 2022/10/03 04:48 [entrez]
PHST- 2022/10/04 06:00 [pubmed]
PHST- 2022/10/04 06:01 [medline]
PHST- 2022/09/10 00:00 [pmc-release]
AID - S2666-2477(22)00055-0 [pii]
AID - 100139 [pii]
AID - 10.1016/j.xhgg.2022.100139 [doi]
PST - epublish
SO  - HGG Adv. 2022 Sep 10;3(4):100139. doi: 10.1016/j.xhgg.2022.100139. eCollection 
      2022 Oct 13.