A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)
| Autor: | Z.A. Yuan, Alan Brook, Grace M. Hobson, Jennifer Kirkham, Linda Banser, Angelique Davis-Williams, Melissa Aragon, Carolyn W. Gibson |
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| Rok vydání: | 2009 |
| Předmět: |
Adolescent
Amelogenesis Imperfecta DNA Mutational Analysis Gene Dosage Biology Microphthalmia Article X-inactivation Young Adult stomatognathic system Bone Density Hardness X Chromosome Inactivation Genetics medicine Humans Microphthalmos Genetic Predisposition to Disease Amelogenesis imperfecta Child Dental Enamel AMELX Genetics (clinical) Chromosomal Deletion Chromosomes Human X medicine.disease Molecular biology stomatognathic diseases genomic DNA Child Preschool Dentin Skin Abnormalities Female Chromosome Deletion Amelogenin Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :1698-1705 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.32968 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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