Conflict of interest: none.
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
Version of Record online: 4 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2078–2083, August 2013
How to Cite
2013. 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. Am J Med Genet Part A. 161A:2078–2083., , , , , , , , .
- Issue online: 24 JUL 2013
- Version of Record online: 4 JUL 2013
- Manuscript Accepted: 15 APR 2013
- Manuscript Received: 19 JAN 2013
- Ministry of Education, Culture, Sports, Science and Technology (MEXT)
- Ministry of Health, Labor, and Welfare, Japan
- Japan Society for the Promotion of Science (JSPS)
- Saethre–Chotzen syndrome;
- concurrent chromosomal deletions;
- intellectual disability;
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.