一名患有帕皮永-勒费弗尔综合征的中国儿童中出现的一种新型大片段缺失合并无义突变。
A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.
作者信息
Wu W, Chen B, Chen X, Chen L, Yi L, Wang Y, Yan F, Sun W
机构信息
Department of Periodontology, Institute and Hospital of Stomatology, Nanjing University Medical School, Nanjing, China.
Translational Medicine Center, Nanjing University Medical School, Nanjing, China.
出版信息
J Periodontal Res. 2016 Jun;51(3):376-80. doi: 10.1111/jre.12317. Epub 2015 Sep 19.
BACKGROUND AND OBJECTIVE
Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive hereditary disease (MIM245000). The syndrome is characterized by palmoplantar keratoderma and early onset periodontitis, caused by CTSC gene mutation. The mutation in CTSC previously reported is mainly point mutations. Large deletion in the CTSC gene has not yet been reported.
MATERIAL AND METHODS
We collected 5 mL peripheral blood from a patient with PLS and her family members and used the direct sequencing method to perform CTSC bidirectional sequencing. We also used FISH to analyze the approximate locations of the ends of the missing fragment and then determined the fragment sequence through direct sequencing.
RESULTS
The result demonstrated that the patient have a 110 kb deletion (Chr11: 88032292: 88142997(NC_000011)) combined with a nonsense mutation (Gln182Ter) in this gene.
CONCLUSION
Our study reveals a compound mutation consisting of a large deletion and a nonsense mutation, which provides a new insight in the mutation type of CTSC gene.
背景与目的
掌跖角化-牙周破坏综合征（PLS）是一种罕见的常染色体隐性遗传性疾病（MIM245000）。该综合征的特征为掌跖角化病和早发性牙周炎，由CTSC基因突变引起。先前报道的CTSC基因突变主要是点突变。CTSC基因的大片段缺失尚未见报道。
材料与方法
我们从一名PLS患者及其家庭成员中采集了5 mL外周血，采用直接测序法对CTSC基因进行双向测序。我们还使用荧光原位杂交（FISH）分析缺失片段末端的大致位置，然后通过直接测序确定片段序列。
结果
结果表明，该患者在该基因中存在一个110 kb的缺失（Chr11: 88032292: 88142997(NC_000011)），并伴有一个无义突变（Gln182Ter）。
结论
我们的研究揭示了一种由大片段缺失和无义突变组成的复合突变，这为CTSC基因的突变类型提供了新的见解。
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