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19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without...

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Autores principales: Dong, Hai-Yun, Zeng, Hui, Hu, Yi-Qiao, Xie, Li, Wang, Jian, Wang, Xiu-Ying, Yang, Yi-Feng, Tan, Zhi-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034553/
https://www.ncbi.nlm.nih.gov/pubmed/27688808
http://dx.doi.org/10.1186/s13039-016-0282-4
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author Dong, Hai-Yun
Zeng, Hui
Hu, Yi-Qiao
Xie, Li
Wang, Jian
Wang, Xiu-Ying
Yang, Yi-Feng
Tan, Zhi-Ping
author_facet Dong, Hai-Yun
Zeng, Hui
Hu, Yi-Qiao
Xie, Li
Wang, Jian
Wang, Xiu-Ying
Yang, Yi-Feng
Tan, Zhi-Ping
author_sort Dong, Hai-Yun
collection PubMed
description BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes. Patient 1 was Malan syndrome with a 1.4 Mb 19p13.2-13.13 microdeletion including NFIX, and Patient 2 was identified as Sotos syndrome with a 1.6 Mb 5q35.2 microdeletion encompassing NSD1. CONCLUSIONS: We identified two patients associated with Manlan syndrome and Sotos syndrome respectively. We also discuss the use of the microarrays-based candidate gene strategy in Mendelian disease-gene identification. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13039-016-0282-4) contains supplementary material, which is available to authorized users.
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spelling pubmed-50345532016-09-29 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome Dong, Hai-Yun Zeng, Hui Hu, Yi-Qiao Xie, Li Wang, Jian Wang, Xiu-Ying Yang, Yi-Feng Tan, Zhi-Ping Mol Cytogenet Research BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes. Patient 1 was Malan syndrome with a 1.4 Mb 19p13.2-13.13 microdeletion including NFIX, and Patient 2 was identified as Sotos syndrome with a 1.6 Mb 5q35.2 microdeletion encompassing NSD1. CONCLUSIONS: We identified two patients associated with Manlan syndrome and Sotos syndrome respectively. We also discuss the use of the microarrays-based candidate gene strategy in Mendelian disease-gene identification. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13039-016-0282-4) contains supplementary material, which is available to authorized users. BioMed Central 2016-09-22 /pmc/articles/PMC5034553/ /pubmed/27688808 http://dx.doi.org/10.1186/s13039-016-0282-4 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Dong, Hai-Yun
Zeng, Hui
Hu, Yi-Qiao
Xie, Li
Wang, Jian
Wang, Xiu-Ying
Yang, Yi-Feng
Tan, Zhi-Ping
19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
title 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
title_full 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
title_fullStr 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
title_full_unstemmed 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
title_short 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
title_sort 19p13.2 microdeletion including nfix associated with overgrowth and intellectual disability suggestive of malan syndrome
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034553/
https://www.ncbi.nlm.nih.gov/pubmed/27688808
http://dx.doi.org/10.1186/s13039-016-0282-4
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