biostudies-literatureUnknown10(1)Abu-Amero KK<h4>Objective</h4>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.<h4>Results</h4>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 abBMC research notes562https://www.ebi.ac.uk/biostudies/studies/S-EPMC5674732biostudies-literatureA microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.PMC5674732Khan AOAbu-Amero KKKondkar AAfalseA microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.<h4>Objective</h4>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.<h4>Results</h4>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 ab2017-01-01T00:00:00Z2017 Nov2025-04-22T20:51:41.828Z2019-03-27T03:01:06ZS-EPMC56747322911073710.1186/s13104-017-2888-y