How to Cite this Article: Filho AB, Souza J, Faucz FR, Sotomaior VS, Dupont B, Bartel F, Rodriguez R, Schwartz CE, Skinner C, Alliman S, Raskin S. 2011. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. Am J Med Genet Part A 155:1152–1156.
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization†
Article first published online: 11 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 1152–1156, May 2011
How to Cite
Filho, A. B., Souza, J., Faucz, F. R., Sotomaior, V. S., Dupont, B., Bartel, F., Rodriguez, R., Schwartz, C. E., Skinner, C., Alliman, S. and Raskin, S. (2011), Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. Am. J. Med. Genet., 155: 1152–1156. doi: 10.1002/ajmg.a.33942
- Issue published online: 19 APR 2011
- Article first published online: 11 APR 2011
- Manuscript Accepted: 22 JAN 2011
- Manuscript Received: 26 OCT 2010
- split hand/foot malformation;
- somatic/gonadal mosaicism;
- array-based comparative genomic hybridization;
- eye abnormalities
Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including SHFM1 (SHFM1 at 7q21–q22), SHFM2 (Xq26), SHFM3 (FBXW4/DACTYLIN at 10q24), SHFM4 (TP63 at 3q27), and SHFM5 (DLX1 and DLX 2 at 2q31). SHFM3 is unique in that it is caused by submicroscopic tandem chromosome duplications of FBXW4/DACTYLIN. In order to show that array-based comparative genomic hybridization should be considered an essential aspect of the genetic analysis of patients with SHFM, we report on a family with two brothers who have ectrodactyly. Interestingly, both also have ocular abnormalities. Their sister and both parents are healthy. DNA of all five family members was analyzed using oligonucleotide-based DNA microarray and quantitative PCR. The two affected brothers were found to have a small duplication of approximately 539 kb at 10q24.32. The patients' sister and father do not have the microduplication, but qPCR showed that mother's DNA carries the duplication in 20% of blood lymphocytes. In this family, two children were affected with ectrodactyly having a duplication over the SHFM3 locus. The mother, who shows no clinical features of ectrodacytyly, is a mosaic for the same duplication. Therefore, we demonstrate that somatic/gonadal mosaicism is a mechanism that gives rise to SHFM. We also suggest that ocular abnormalities may be part of the clinical description of SHFM3. © 2011 Wiley-Liss, Inc.