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Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual...

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Autores principales: Gavril, Eva-Cristiana, Nucă, Irina, Pânzaru, Monica-Cristina, Ivanov, Anca Viorica, Mihai, Cosmin-Teodor, Antoci, Lucian-Mihai, Ciobanu, Cristian-Gabriel, Rusu, Cristina, Popescu, Roxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957522/
https://www.ncbi.nlm.nih.gov/pubmed/36833393
http://dx.doi.org/10.3390/genes14020465
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author Gavril, Eva-Cristiana
Nucă, Irina
Pânzaru, Monica-Cristina
Ivanov, Anca Viorica
Mihai, Cosmin-Teodor
Antoci, Lucian-Mihai
Ciobanu, Cristian-Gabriel
Rusu, Cristina
Popescu, Roxana
author_facet Gavril, Eva-Cristiana
Nucă, Irina
Pânzaru, Monica-Cristina
Ivanov, Anca Viorica
Mihai, Cosmin-Teodor
Antoci, Lucian-Mihai
Ciobanu, Cristian-Gabriel
Rusu, Cristina
Popescu, Roxana
author_sort Gavril, Eva-Cristiana
collection PubMed
description 2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual disability (ID), brachydactyly type E, short stature, obesity, hypotonia in infancy, and abnormal behavior with autism spectrum disorder. Although numerous cases have been described so far, the exact mapping of the genotype and phenotype have not yet been achieved. Materials and Methods: In this study we analyzed nine newly diagnosed cases with 2q37 deletion (3 male/6 female, aged between 2 and 30 years old), and followed up at the Iasi Regional Medical Genetics Centre. All patients were tested first with MLPA using combined kits P036/P070 subtelomeric screening mix and follow-up mix P264; after, the deletion size and location were confirmed via CGH-array. We compared our findings with the data of other cases reported in the literature. Results: From nine cases, four had pure 2q37 deletions of variable sizes, and five presented deletion/duplication rearrangements (with chromosomes 2q, 9q, and 11p). In most cases, characteristic phenotypic aspects were observed: 9/9 facial dysmorphism, 8/9 global developmental delay and ID, 6/9 hypotonia, 5/9 behavior disorders, and 8/9 skeletal anomalies—especially brachydactyly type E. Two cases had obesity, one case had craniosynostosis, and four had heart defects. Other features found in our cases included translucent skin and telangiectasias (6/9), and a hump of fat on the upper thorax (5/9). Conclusions: Our study enriches the literature data by describing new clinical features associated with 2q37 deletion, and possible genotype–phenotype correlations.
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spelling pubmed-99575222023-02-25 Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review Gavril, Eva-Cristiana Nucă, Irina Pânzaru, Monica-Cristina Ivanov, Anca Viorica Mihai, Cosmin-Teodor Antoci, Lucian-Mihai Ciobanu, Cristian-Gabriel Rusu, Cristina Popescu, Roxana Genes (Basel) Article 2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual disability (ID), brachydactyly type E, short stature, obesity, hypotonia in infancy, and abnormal behavior with autism spectrum disorder. Although numerous cases have been described so far, the exact mapping of the genotype and phenotype have not yet been achieved. Materials and Methods: In this study we analyzed nine newly diagnosed cases with 2q37 deletion (3 male/6 female, aged between 2 and 30 years old), and followed up at the Iasi Regional Medical Genetics Centre. All patients were tested first with MLPA using combined kits P036/P070 subtelomeric screening mix and follow-up mix P264; after, the deletion size and location were confirmed via CGH-array. We compared our findings with the data of other cases reported in the literature. Results: From nine cases, four had pure 2q37 deletions of variable sizes, and five presented deletion/duplication rearrangements (with chromosomes 2q, 9q, and 11p). In most cases, characteristic phenotypic aspects were observed: 9/9 facial dysmorphism, 8/9 global developmental delay and ID, 6/9 hypotonia, 5/9 behavior disorders, and 8/9 skeletal anomalies—especially brachydactyly type E. Two cases had obesity, one case had craniosynostosis, and four had heart defects. Other features found in our cases included translucent skin and telangiectasias (6/9), and a hump of fat on the upper thorax (5/9). Conclusions: Our study enriches the literature data by describing new clinical features associated with 2q37 deletion, and possible genotype–phenotype correlations. MDPI 2023-02-11 /pmc/articles/PMC9957522/ /pubmed/36833393 http://dx.doi.org/10.3390/genes14020465 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 Article
Gavril, Eva-Cristiana
Nucă, Irina
Pânzaru, Monica-Cristina
Ivanov, Anca Viorica
Mihai, Cosmin-Teodor
Antoci, Lucian-Mihai
Ciobanu, Cristian-Gabriel
Rusu, Cristina
Popescu, Roxana
Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
title Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
title_full Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
title_fullStr Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
title_full_unstemmed Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
title_short Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
title_sort genotype–phenotype correlations in 2q37-deletion syndrome: an update of the clinical spectrum and literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957522/
https://www.ncbi.nlm.nih.gov/pubmed/36833393
http://dx.doi.org/10.3390/genes14020465
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