A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
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DOI：
10.1002/ajmg.a.38625
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发表时间：
2018-04
期刊：
影响因子：
--
通讯作者：
Letra A
中科院分区：
文献类型：
--
作者：
Dinckan N;Du R;Akdemir ZC;Bayram Y;Jhangiani SN;Doddapaneni H;Hu J;Muzny DM;Guven Y;Aktoren O;Kayserili H;Boerwinkle E;Gibbs RA;Posey JE;Lupski JR;Uyguner ZO;Letra A
牙齿发育受到多种遗传途径的调节，最终驱动口腔上皮和间质之间复杂的相互作用。此过程中任何时间点的中断都可能导致牙齿发育失败，也称为牙齿发育不全（TA）。 TA 是人类常见的颅面异常，代表无法长出一颗或多颗恒牙。许多基因和这些基因中潜在的微妙变异都会导致 TA 表型。我们报告了通过全外显子组测序 (WES) 鉴定的罕见纯合 ANTXR1 变异 (c.1312C>T) 在一个牙齿发育不全的土耳其近亲家庭中的临床和遗传影响。 ANTXR1 突变与 GAPO（生长迟缓、脱发、假性无牙和视神经萎缩）综合征和婴儿血管瘤有关，但在我们的研究家族中没有观察到与这些病症相关的临床特征。我们在发育中的小鼠胚胎的口腔和牙齿组织中检测到了 Antxr1 的表达，进一步支持了该基因在牙齿发育中的作用。我们的研究结果表明 ANTXR1 作为分离 TA 的候选基因，表明涉及特定的低等位基因，并扩展了先前已知的 ANTXR1 相关表型。
Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c.1312C>T), identified by whole exome sequencing (WES), in a consanguineous Turkish family with tooth agenesis. Mutations in ANTXR1 have been associated with GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) syndrome and infantile hemangioma, however no clinical characteristics associated with these conditions were observed in our study family. We detected the expression of Antxr1 in oral and dental tissues of developing mouse embryos, further supporting a role for this gene in tooth development. Our findings implicate ANTXR1 as a candidate gene for isolated TA, suggest the involvement of specific hypomorphic alleles, and expand the previously known ANTXR1-associated phenotypes.
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影响因子：
9.8
作者：
Lammi, L;Arte, S;Nieminen, P
通讯作者：
Nieminen, P
影响因子：
7
作者：
Pollard, Katherine S.;Hubisz, Melissa J.;Siepel, Adam
通讯作者：
Siepel, Adam
DOI：
10.1038/gim.2016.10
发表时间：
2016-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
11.2
作者：
Cullen M;Seaman S;Chaudhary A;Yang MY;Hilton MB;Logsdon D;Haines DC;Tessarollo L;St Croix B
通讯作者：
St Croix B
影响因子：
14.9
作者：
Finn RD;Mistry J;Tate J;Coggill P;Heger A;Pollington JE;Gavin OL;Gunasekaran P;Ceric G;Forslund K;Holm L;Sonnhammer EL;Eddy SR;Bateman A
通讯作者：
Bateman A