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Coffin‐Siris syndrome and cardiac anomaly with a novel SOX 11 mutation
Author(s) -
Okamoto Nobuhiko,
Ehara Eiji,
Tsurusaki Yoshinori,
Miyake Noriko,
Matsumoto Naomichi
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12242
Subject(s) - microcephaly , mutation , phenotype , medicine , genetics , gata4 , gene , cardiology , biology , transcription factor
Coffin‐Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX 11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX 11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies. Therefore, cardiac anomalies might be an important complication in patients with SOX 11 mutations.