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Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome

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收录情况： ◇ SCIE ◇ CSCD-C

作者：

机构： [1]Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Beijing Pedia, Key Lab Major Dis Children,Minist Educ,Ctr Med Ge, Beijing 100045, Peoples R China; [2]Capital Med Univ, Beijing Key Lab Chron Renal Dis & Blood Purificat, Key Lab Major Dis Children, Minist Educ,Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China; [3]Capital Med Univ, Nephrol Dept, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China; [4]Capital Med Univ, Beijing Key Lab Pediat Dis Otolaryngol Head & Nec, Key Lab Major Dis Children, Minist Educ,Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China; [5]Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Pediat Res Inst, Beijing 100045, Peoples R China; [6]Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Beijing 100045, Peoples R China; [7]Capital Med Univ, Sch Pediat, Beijing 100069, Peoples R China

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关键词： Bardet-Biedl syndrome MKKS BBS6 NPHP1 whole-exome sequencing

摘要：

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants (c.1192C > T, p.Q398* and c.1175C > T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants. We also found a missense variant (c.2029G > C, p.E677Q) in NPHP1 and a missense variant (c.2470C > T, p.R824C) in BBS9 in the proband only, which are variants of uncertain significance. The compound heterozygous variants were probably responsible for the BBS phenotype in this Chinese pedigree and the missense mutations in NPHP1 and BBS9 might contribute to the mutation load.

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中科院(CAS)分区：

出版当年[2016]版：

大类 | 4 区生物

小类 | 3 区生物学

最新[2023]版：

大类 | 2 区生物学

小类 | 2 区生物学

JCR分区：

出版当年[2015]版：

Q2 BIOLOGY

最新[2023]版：

Q1 BIOLOGY

影响因子： 8 最新[2023版] 7.3 最新五年平均 2.297 出版当年[2015版] 1.772 出版当年五年平均 1.688 出版前一年[2014版] 2.781 出版后一年[2016版]

第一作者：

第一作者机构： [1]Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Beijing Pedia, Key Lab Major Dis Children,Minist Educ,Ctr Med Ge, Beijing 100045, Peoples R China;

通讯作者：

通讯机构： [2]Capital Med Univ, Beijing Key Lab Chron Renal Dis & Blood Purificat, Key Lab Major Dis Children, Minist Educ,Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China; [3]Capital Med Univ, Nephrol Dept, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China;

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