{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(1)"],"submitter":["Abu-Amero KK"],"pubmed_abstract":["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 ab"],"journal":["BMC research notes"],"pagination":["562"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5674732"],"repository":["biostudies-literature"],"pubmed_title":["A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles."],"pmcid":["PMC5674732"],"pubmed_authors":["Khan AO","Abu-Amero KK","Kondkar AA"],"additional_accession":[]},"is_claimable":false,"name":"A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.","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 ab","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Nov","modification":"2025-04-22T20:51:41.828Z","creation":"2019-03-27T03:01:06Z"},"accession":"S-EPMC5674732","cross_references":{"pubmed":["29110737"],"doi":["10.1186/s13104-017-2888-y"]}}