Hobson Grace M, Gibson Carolyn W, Aragon Melissa, Yuan Zhi-an, Davis-Williams Angelique, Banser Linda, Kirkham Jennifer, Brook Alan H
Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA.
Am J Med Genet A. 2009 Aug;149A(8):1698-705. doi: 10.1002/ajmg.a.32968.
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.
描述了一名女性患者，其具有小眼症伴线性皮肤缺损（MLS或MIDAS）和牙釉质缺损的临床症状，外观与X连锁釉质发育不全（XAI）相符。从患者血液中纯化基因组DNA，半定量多重PCR显示存在一个包含釉原蛋白基因（AMELX）的缺失。由于MLS也定位于Xp22，对基因组DNA进行了阵列比较基因组杂交，并鉴定出一个大的杂合缺失。一颗乳牙和一颗恒牙的组织病理学显示牙釉质层存在异常，第三颗牙齿的显微硬度测量值异常高，这可能是由于扫描电子显微镜观察到的超微结构异常所致。这是首例同时患有这两种罕见病症的患者报告，也是首次描述由包含整个AMELX基因的缺失导致的表型。该患者还有50多个其他基因单倍体。
