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Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9
Author(s) -
Shimbo Hiroko,
Oyoshi Tatsuki,
Kurosawa Kenji
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12216
Subject(s) - haploinsufficiency , medicine , ptosis , dysostosis , craniofacial , twist transcription factor , craniosynostosis , pediatrics , transcription factor , genetics , anatomy , gene , biology , surgery , phenotype , congenital disease , psychiatry , nuclear protein
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.