Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
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DOI：
10.1177/0022034509333822
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发表时间：
2009-04
影响因子：
7.6
通讯作者：
Hart TC
中科院分区：
文献类型：
--
作者：
Wright JT;Frazier-Bowers S;Simmons D;Alexander K;Crawford P;Han ST;Hart PS;Hart TC
FAM83H基因突变与常染色体显性遗传性低钙化成釉不全(ADHCAI)有关，ADHCA1的典型特征是釉质厚度正常，矿物质含量明显减少。本研究验证了FAM83H相关ADHCA1家系中存在表型和基因关联的假设。对7个分离ADHCA1家系(147人)进行了评估。表型分型包括临床、放射学、组织学和生化研究，基因分型采用突变分析。发现了多个新的FAM83H突变，其中包括两个2个碱基缺失突变，这是首次发现的非无义突变。在受影响的个体中，颅面偏离正常的情况更为普遍。具有677个或更少氨基酸的截短FAMH3H突变的患者表现出普遍的ADHCAI表型，而那些突变能够产生至少694个氨基酸的蛋白质的患者具有一种独特的、以前未报道的主要影响宫颈釉质的表型。这项研究表明，独特的表型与特定的FAM83H突变有关。
FAM83H gene mutations are associated with autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) which is typically characterized by enamel having normal thickness and a markedly decreased mineral content. This study tests the hypothesis that there are phenotype and genotype associations in families with FAM83H associated ADHCAI. Seven families segregating ADHCAI (147 individuals) were evaluated. Phenotyping included clinical, radiographic, histological and biochemical studies and genotyping was by mutational analysis. Multiple novel FAM83H mutations were identified including two 2 bp deletion mutations, the first non-nonsense mutations identified. Craniofacial deviation from normal was more prevalent in the affected individuals. Affected individuals having truncating FAMH3H mutations of 677 amino acids or less presented generalized ADHCAI phenotype while those having mutations capable of producing a protein of at least 694 amino acids had a unique and previously unreported phenotype affecting primarily the cervical enamel. This investigation shows unique phenotypes are associated with specific FAM83H mutations.
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DOI：
10.1111/j.1600-0528.1986.tb01493.x
发表时间：
1986-02-01
影响因子：
2.3
作者：
BACKMAN, B;HOLM, AK
通讯作者：
HOLM, AK
DOI：
10.1016/0030-4220(79)90170-1
发表时间：
1979-01-01
影响因子：
--
作者：
CHOSACK, A;EIDELMAN, E;COHEN, T
通讯作者：
COHEN, T
影响因子：
7.6
作者：
El-Gheriani, AA;Maher, BS;Marazita, ML
通讯作者：
Marazita, ML
影响因子：
3
作者：
Ravassipour, DB;Powell, CM;Wright, JT
通讯作者：
Wright, JT
影响因子：
1.9
作者：
Wright, J. Tim;Daly, Bill;Yamauchi, Mitsuo
通讯作者：
Yamauchi, Mitsuo