一种与RUNX2基因c.391C>T突变相关的锁骨颅骨发育不全（CCD）新表型变异。
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.
作者信息
Callea Michele, Fattori Fabiana, Yavuz Izzet, Bertini Enrico
机构信息
Institute for Maternal and Child Health--IRCCS Burlo Garofolo, Trieste, Italy.
出版信息
BMJ Case Rep. 2012 Dec 5;2012:bcr1220115422. doi: 10.1136/bcr-12-2011-5422.
Abstract
The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8 years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype-genotype association.
摘要
RUNX2基因是一种参与锁骨颅骨发育不全（CCD）的生理调节基因。一名13个月大的儿童表现出CCD的临床特征。在3岁零14个月时，临床基因评估和DNA分析证实了诊断，结果显示RUNX2基因存在错义突变p.R131C（c.391C>T）。在8岁零14个月时，发现该儿童有独特的牙齿表型，表现为多生牙缺失和一颗牙齿先天性缺失。采用了一种简单的治疗方法，即阻断性正畸治疗。RUNX2基因中这种特定错义突变的存在，与典型多生牙的缺失相关，这可能提示了一种表型-基因型关联。
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1
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J Med Genet. 2012 Jul;49(7):437-41. doi: 10.1136/jmedgenet-2012-100825. Epub 2012 Jun 20.
2
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3
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Orthod Craniofac Res. 2010 Nov;13(4):197-202. doi: 10.1111/j.1601-6343.2010.01495.x.
4
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298.
5
Craniofacial changes and treatment of the stomatognathic system in subjects with Cleidocranial dysplasia.
Eur J Paediatr Dent. 2010 Mar;11(1):39-43.
6
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8
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9
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
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