title: Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.
abstract: Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included. In comparison with previously reported patients, HDAC9 was suggested to contribute to developmental delay in SCS patients with 7p21 mirodeletions.
authors.affiliation: Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Hiroko
authors.identifier: http://orcid.org/0000-0003-1677-752X
authors.initials: H
authors.lastname: Shimbo
authors.affiliation: Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
authors.forename: Tatsuki
authors.initials: T
authors.lastname: Oyoshi
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Kenji
authors.identifier: http://orcid.org/0000-0002-6817-7748
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D054893:Cone-Beam Computed Tomography; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D057895:Haploinsufficiency; D006655:Histone Deacetylases / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D018006:Myogenic Regulatory Factors / Q000235:genetics; D065886:Neurodevelopmental Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics*; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000172:deficiency / Q000235:genetics; D051879:Twist-Related Protein 1 / Q000172:deficiency / Q000235:genetics*
chemical_list: C486163:FERD3L protein, human; D018006:Myogenic Regulatory Factors; D009687:Nuclear Proteins; C470021:POLR1F protein, human; D011506:Proteins; D012097:Repressor Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; C486544:HDAC9 protein, human; D006655:Histone Deacetylases
keywords: 7p21 deletion; Craniosynostosis; HDAC9; Saethre-Chotzen syndrome; TWIST1