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A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles

OBJECTIVE: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore, a candidate gene analysis (KIF21A, TUBB3 SALL4, CHN1, HOX...

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Autores principales: Abu-Amero, Khaled K., Kondkar, Altaf A., Khan, Arif O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674732/
https://www.ncbi.nlm.nih.gov/pubmed/29110737
http://dx.doi.org/10.1186/s13104-017-2888-y
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author Abu-Amero, Khaled K.
Kondkar, Altaf A.
Khan, Arif O.
author_facet Abu-Amero, Khaled K.
Kondkar, Altaf A.
Khan, Arif O.
author_sort Abu-Amero, Khaled K.
collection PubMed
description OBJECTIVE: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore, a candidate gene analysis (KIF21A, TUBB3 SALL4, CHN1, HOXA1) and a high-resolution array comparative genomic hybridization (arrayCGH) was performed in two unrelated children with sporadic CFEOM1. RESULTS: Two unrelated Saudi patients did not have any mutation(s) after sequencing the full coding regions of SALL4, CHN1, HOXA1, and TUBB3 genes; and exons 8, 20, and 21 of the KIF21A gene. However, arrayCGH revealed a 3.17 Kb deletion at chromosome 8p22 with copy number state equal to 1, indicating a heterozygous deletion. This deletion was absent in proband’s mother or father or 220 unrelated healthy individuals of similar ethnicity. The deletion encompassed only one functional gene, GRHL2, which encodes a transcription factor. In humans, defects in this gene are a cause of non-syndromic sensorineural deafness, autosomal dominant type 28 (DFNA28). We speculate that GRHL2 gene may have a role in orbital innervations and the defect in this gene (deletion) may be related to the CFEOM1 phenotype in these two children.
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spelling pubmed-56747322017-11-15 A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles Abu-Amero, Khaled K. Kondkar, Altaf A. Khan, Arif O. BMC Res Notes Research Note OBJECTIVE: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore, a candidate gene analysis (KIF21A, TUBB3 SALL4, CHN1, HOXA1) and a high-resolution array comparative genomic hybridization (arrayCGH) was performed in two unrelated children with sporadic CFEOM1. RESULTS: Two unrelated Saudi patients did not have any mutation(s) after sequencing the full coding regions of SALL4, CHN1, HOXA1, and TUBB3 genes; and exons 8, 20, and 21 of the KIF21A gene. However, arrayCGH revealed a 3.17 Kb deletion at chromosome 8p22 with copy number state equal to 1, indicating a heterozygous deletion. This deletion was absent in proband’s mother or father or 220 unrelated healthy individuals of similar ethnicity. The deletion encompassed only one functional gene, GRHL2, which encodes a transcription factor. In humans, defects in this gene are a cause of non-syndromic sensorineural deafness, autosomal dominant type 28 (DFNA28). We speculate that GRHL2 gene may have a role in orbital innervations and the defect in this gene (deletion) may be related to the CFEOM1 phenotype in these two children. BioMed Central 2017-11-06 /pmc/articles/PMC5674732/ /pubmed/29110737 http://dx.doi.org/10.1186/s13104-017-2888-y Text en © The Author(s) 2017 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 Note
Abu-Amero, Khaled K.
Kondkar, Altaf A.
Khan, Arif O.
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
title A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
title_full A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
title_fullStr A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
title_full_unstemmed A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
title_short A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
title_sort microdeletion in the grhl2 gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674732/
https://www.ncbi.nlm.nih.gov/pubmed/29110737
http://dx.doi.org/10.1186/s13104-017-2888-y
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