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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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. |
format | Online Article Text |
id | pubmed-5674732 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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