对一个患有巴德-比德尔综合征的家庭进行外显子测序，发现了BBS7基因中常见的俄罗斯突变c.1967_1968delTAinsC。
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.
作者信息
Suspitsin Evgeny N, Sokolenko Anna P, Lyazina Lydia V, Preobrazhenskaya Elena V, Lepenchuk Alla Y, Imyanitov Evgeny N
机构信息
N.N. Petrov Institute of Oncology, St. Petersburg, Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
St. Petersburg Pediatric Medical University, St. Petersburg, Russia ; City Medical Genetic Center, St. Petersburg, Russia.
出版信息
Mol Syndromol. 2015 Jul;6(2):96-8. doi: 10.1159/000371408. Epub 2015 Jan 24.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney abnormalities. At least 19 genes have been shown to be associated with BBS, and therefore, genetic testing is highly complicated. We used an Illumina MiSeq platform for whole exome sequencing analysis of a family with strong clinical features of BBS. A homozygous c.1967_1968delTAinsC (p.Leu656fsX673; RefSeq NM_176824.2) mutation in BBS7 was identified in both affected children, while their healthy sibling and the non-consanguineous parents were heterozygous for this allele. Genotyping of 2,832 DNA samples obtained from Russian blood donors revealed 2 additional heterozygous subjects (0.07%) with the c.1967_1968delTAinsC mutation. These findings may facilitate the genetic diagnosis for Slavic BBS patients.
巴德-比埃尔综合征（BBS）是一种罕见的常染色体隐性遗传性纤毛病，其特征为肥胖、轴后多指（趾）畸形、色素性视网膜炎、智力迟钝和肾脏异常。已证实至少有19个基因与BBS相关，因此基因检测非常复杂。我们使用Illumina MiSeq平台对一个具有典型BBS临床特征的家系进行全外显子测序分析。在两个患病儿童中均鉴定出BBS7基因存在纯合的c.1967_1968delTAinsC（p.Leu656fsX673；RefSeq NM_176824.2）突变，而他们健康的兄弟姐妹以及非近亲父母则为该等位基因的杂合子。对从俄罗斯献血者获取的2832份DNA样本进行基因分型，发现另外2名杂合子个体（0.07%）携带c.1967_1968delTAinsC突变。这些发现可能有助于斯拉夫族BBS患者的基因诊断。
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