南斯-霍兰综合征：一种涉及牙釉质蛋白基因缺失的邻接基因综合征？病例报告及分子分析。
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.
作者信息
Franco E, Hodgson S, Lench N, Roberts G J
机构信息
Department of Orthodontics and Paediatric Dentistry UMDS, Australia.
出版信息
Oral Dis. 1995 Mar;1(1):8-11. doi: 10.1111/j.1601-0825.1995.tb00150.x.
DESIGN
A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3.
SETTING
The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX).
RESULTS
Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.
设计
报告了1例患有南斯-霍兰综合征的男性病例，其携带者母亲及外祖母也有该疾病的一些特征。有人提出，南斯-霍兰综合征可能是一种定位在Xp21.2-p22.3染色体上的邻接基因综合征。
背景
先证者患有先天性白内障、小眼症及牙齿异常，包括螺丝刀形门牙和牙釉质凹陷发育不全的迹象。Xp21.2-p22.3区域还包含牙釉质蛋白基因牙釉蛋白（AMGX）。
结果
运用分子遗传学技术，我们已证实，在该例南斯-霍兰综合征中，没有证据表明AMGX基因缺失。
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