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Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen‐like phenotype, severe intellectual disability, and autism
Author(s) -
Shimada Shino,
Okamoto Nobuhiko,
Nomura Shohei,
Fukui Miho,
Shimakawa Shuichi,
Sangu Noriko,
Shimojima Keiko,
Osawa Makiko,
Yamamoto Toshiyuki
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36027
Subject(s) - phenotype , craniofacial , twist transcription factor , intellectual disability , craniosynostosis , medicine , speech delay , craniosynostoses , autism , global developmental delay , genetics , gene , pediatrics , biology , psychiatry , downregulation and upregulation , epithelial–mesenchymal transition
We observed a patient with a Saethre–Chotzen‐like phenotype with severe neurological features. Saethre–Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. The phenotypic features of chromosomal microdeletions involving the 7p21.1, where the twist homolog 1 gene ( TWIST1 ) responsible for SCS is located, are recognized as a contiguous gene deletion syndrome with SCS and other phenotypic manifestations. In this study, we identified microdeletions in 4q13.2 and 7p21.1 in a patient with SCS and severe neurological features including developmental delay and autistic behavior. In comparison to other SCS patients with intragenic mutations or small deletions in 7p21.1, neurological features seen in this patient were extremely severe, likely modified by a concurrent deletion of 4q13.2. Both microdeletions were de novo and paternal in origin. Further information on such concurrent chromosomal deletions should be accumulated for better understanding of the mechanism. © 2013 Wiley Periodicals, Inc.