Cargando…

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic...

Descripción completa

Detalles Bibliográficos
Autores principales: Szczawińska-Popłonyk, Aleksandra, Schwartzmann, Eyal, Chmara, Zuzanna, Głukowska, Antonina, Krysa, Tomasz, Majchrzycki, Maksymilian, Olejnicki, Maurycy, Ostrowska, Paulina, Babik, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179617/
https://www.ncbi.nlm.nih.gov/pubmed/37176024
http://dx.doi.org/10.3390/ijms24098317
_version_ 1785041140314013696
author Szczawińska-Popłonyk, Aleksandra
Schwartzmann, Eyal
Chmara, Zuzanna
Głukowska, Antonina
Krysa, Tomasz
Majchrzycki, Maksymilian
Olejnicki, Maurycy
Ostrowska, Paulina
Babik, Joanna
author_facet Szczawińska-Popłonyk, Aleksandra
Schwartzmann, Eyal
Chmara, Zuzanna
Głukowska, Antonina
Krysa, Tomasz
Majchrzycki, Maksymilian
Olejnicki, Maurycy
Ostrowska, Paulina
Babik, Joanna
author_sort Szczawińska-Popłonyk, Aleksandra
collection PubMed
description The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.
format Online
Article
Text
id pubmed-10179617
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-101796172023-05-13 Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach Szczawińska-Popłonyk, Aleksandra Schwartzmann, Eyal Chmara, Zuzanna Głukowska, Antonina Krysa, Tomasz Majchrzycki, Maksymilian Olejnicki, Maurycy Ostrowska, Paulina Babik, Joanna Int J Mol Sci Review The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach. MDPI 2023-05-05 /pmc/articles/PMC10179617/ /pubmed/37176024 http://dx.doi.org/10.3390/ijms24098317 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Szczawińska-Popłonyk, Aleksandra
Schwartzmann, Eyal
Chmara, Zuzanna
Głukowska, Antonina
Krysa, Tomasz
Majchrzycki, Maksymilian
Olejnicki, Maurycy
Ostrowska, Paulina
Babik, Joanna
Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
title Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
title_full Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
title_fullStr Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
title_full_unstemmed Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
title_short Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach
title_sort chromosome 22q11.2 deletion syndrome: a comprehensive review of molecular genetics in the context of multidisciplinary clinical approach
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179617/
https://www.ncbi.nlm.nih.gov/pubmed/37176024
http://dx.doi.org/10.3390/ijms24098317
work_keys_str_mv AT szczawinskapopłonykaleksandra chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT schwartzmanneyal chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT chmarazuzanna chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT głukowskaantonina chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT krysatomasz chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT majchrzyckimaksymilian chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT olejnickimaurycy chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT ostrowskapaulina chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach
AT babikjoanna chromosome22q112deletionsyndromeacomprehensivereviewofmoleculargeneticsinthecontextofmultidisciplinaryclinicalapproach