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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 1...

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Autores principales: Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt‐Marie, Tammimies, Kristiina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978403/
https://www.ncbi.nlm.nih.gov/pubmed/31730283
http://dx.doi.org/10.1002/mgg3.1013
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author Myers, Lynnea
Blyth, Moira
Moradkhani, Kamran
Hranilović, Dubravka
Polesie, Sam
Isaksson, Johan
Nordgren, Ann
Bucan, Maja
Vincent, Marie
Bölte, Sven
Anderlid, Britt‐Marie
Tammimies, Kristiina
author_facet Myers, Lynnea
Blyth, Moira
Moradkhani, Kamran
Hranilović, Dubravka
Polesie, Sam
Isaksson, Johan
Nordgren, Ann
Bucan, Maja
Vincent, Marie
Bölte, Sven
Anderlid, Britt‐Marie
Tammimies, Kristiina
author_sort Myers, Lynnea
collection PubMed
description BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. METHODS: We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. RESULTS: The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. CONCLUSION: This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.
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spelling pubmed-69784032020-01-28 Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications Myers, Lynnea Blyth, Moira Moradkhani, Kamran Hranilović, Dubravka Polesie, Sam Isaksson, Johan Nordgren, Ann Bucan, Maja Vincent, Marie Bölte, Sven Anderlid, Britt‐Marie Tammimies, Kristiina Mol Genet Genomic Med Clinical Report BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. METHODS: We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. RESULTS: The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. CONCLUSION: This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs. John Wiley and Sons Inc. 2019-11-15 /pmc/articles/PMC6978403/ /pubmed/31730283 http://dx.doi.org/10.1002/mgg3.1013 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Clinical Report
Myers, Lynnea
Blyth, Moira
Moradkhani, Kamran
Hranilović, Dubravka
Polesie, Sam
Isaksson, Johan
Nordgren, Ann
Bucan, Maja
Vincent, Marie
Bölte, Sven
Anderlid, Britt‐Marie
Tammimies, Kristiina
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
title Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
title_full Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
title_fullStr Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
title_full_unstemmed Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
title_short Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
title_sort variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
topic Clinical Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978403/
https://www.ncbi.nlm.nih.gov/pubmed/31730283
http://dx.doi.org/10.1002/mgg3.1013
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