How to cite this article: Hobson GM, Gibson CW, Aragon M, Yuan Z, Davis-Williams A, Banser L, Kirkham J, Brook AH. 2009. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet Part A 149A:1698–1705.
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)†
Article first published online: 16 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1698–1705, August 2009
How to Cite
Hobson, G. M., Gibson, C. W., Aragon, M., Yuan, Z.-a., Davis-Williams, A., Banser, L., Kirkham, J. and Brook, A. H. (2009), A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am. J. Med. Genet., 149A: 1698–1705. doi: 10.1002/ajmg.a.32968
- Issue published online: 23 JUL 2009
- Article first published online: 16 JUL 2009
- Manuscript Accepted: 9 MAY 2009
- Manuscript Received: 14 JUL 2008
- Nemours and NCRR. Grant Number: P20RR020173
- Wellcome Trust Research. Grant Number: 075945/Z/04/Z
- NIDCR. Grant Number: DE011089
- MLS syndrome;
- amelogenesis imperfecta;
- X-chromosomal deletion;
- array CGH;
- mineral microhardness
A female patient is described with clinical symptoms of both microphthalmia with linear skin defects (MLS or MIDAS) and dental enamel defects, having an appearance compatible with X-linked amelogenesis imperfecta (XAI). Genomic DNA was purified from the patient's blood and semiquantitative multiplex PCR revealed a deletion encompassing the amelogenin gene (AMELX). Because MLS is also localized to Xp22, genomic DNA was subjected to array comparative genomic hybridization, and a large heterozygous deletion was identified. Histopathology of one primary and one permanent molar tooth showed abnormalities in the dental enamel layer, and a third tooth had unusually high microhardness measurements, possibly due to its ultrastructural anomalies as seen by scanning electron microscopy. This is the first report of a patient with both of these rare conditions, and the first description of the phenotype resulting from a deletion encompassing the entire AMELX gene. More than 50 additional genes were monosomic in this patient. © 2009 Wiley-Liss, Inc.