Lim Sing-Hui, St Germain Elizabeth, Tran-Viet Khanh-Nhat, Staffieri Sandra, Marino Meghan, Dollfus Pr Hélène, Nading Erica B, Crowe Sue, Gole Glen, Perdomo-Trujillo Yaumara, Haybittel Michael, Elder James, Pelletier Valérie, Traboulsi Elias, Mackey David, Young Terri L
The Center for Human Genetics, Duke University Medical Center , Durham, NC , USA.
Ophthalmic Genet. 2014 Mar;35(1):1-6. doi: 10.3109/13816810.2012.752017. Epub 2013 Jun 26.
The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using Sanger sequencing.
Sanger sequencing of theATOH7 gene was performed on 34 affected individual DNA samples. Sequencing was also carried out in three unaffected family members to confirm segregation of identified single nucleotide variations.
Seven sequence variations were identified in ATOH7. No disease-causing sequence changes in the ATOH7 gene was discovered in the ONH patient samples.
Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.
无调性同源物7（ATOH7）基因已在与视神经乳头直径大小的关联研究中被涉及。因此，我们使用桑格测序法对来自澳大利亚、法国和美国的视神经发育不全（ONH）患者的DNA样本进行了ATOH7基因序列变异筛查。
对34份受影响个体的DNA样本进行了ATOH7基因的桑格测序。还对三名未受影响的家庭成员进行了测序，以确认所鉴定的单核苷酸变异的分离情况。
在ATOH7中鉴定出七个序列变异。在ONH患者样本中未发现ATOH7基因中有致病序列变化。
在我们的患者队列中，ATOH7基因内的突变与视神经发育不全的发病机制无关。
