How to Cite this Article: Shimojima K, Isidor B, Caignec CL, Kondo A, Sakata S, Ohno K, Yamamoto T. 2011. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet Part A 155:732–736.
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination†
Article first published online: 15 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 4, pages 732–736, April 2011
How to Cite
Shimojima, K., Isidor, B., Le Caignec, C., Kondo, A., Sakata, S., Ohno, K. and Yamamoto, T. (2011), A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am. J. Med. Genet., 155: 732–736. doi: 10.1002/ajmg.a.33891
- Issue published online: 24 MAR 2011
- Article first published online: 15 MAR 2011
- Manuscript Accepted: 10 DEC 2010
- Manuscript Received: 21 JUL 2010
- Hayashi Memorial Foundation for Female Natural Scientists (to K. Shimojima)
- array-based comparative genomic hybridization (aCGH);
- developmental delay;
- protocadherin (PCDH);
- neuregulin 2 (NRG2)
Chromosomal deletion including 5q31 is rare and only a few patients have been reported to date. We report here on the first two patients with a submicroscopic deletion of 5q31.3 identified by microarray-based comparative genomic hybridization. The common clinical features of both patients were marked hypotonia, feeding difficulty in infancy, severe developmental delay, and epileptic/nonepileptic encephalopathy associated with delayed myelination. Both patients also shared characteristic facial features, including narrow forehead, low-set and abnormal auricles, bilateral ptosis, anteverted nares, long philtrum, tented upper vermilion, edematous cheeks, and high palate. The deleted region contains clustered PCDHs, including PCDHA and PCDHG, which are highly expressed in the brain where they function to guide neurons during brain development, neuronal differentiation, and synaptogenesis. The common deletion also contains neuregulin 2 (NRG2), a major gene for neurodevelopment. We suggest that 5q31.3 deletion is responsible for severe brain developmental delay and distinctive facial features, and that the common findings in these two patients representing a new microdeletion syndrome. We need further investigations to determine which genes are responsible for the patients' characteristic features. © 2011 Wiley-Liss, Inc.