Identification and Characterization o Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

被引：31

作者：

Schaefer, Elise ^{[1
,2
]}

Delvallee, Clarisse ^{[1
]}

Mary, Laura ^{[3
]}

Stoetzel, Corinne ^{[1
]}

Geoffroy, Veronique ^{[1
]}

Marks-Delesalle, Caroline ^{[4
]}

Holder-Espinasse, Muriel ^{[5
]}

Ghoumid, Jamal ^{[6
]}

Dollfus, Helene ^{[1
,2
]}

Muller, Jean ^{[1
,3
]}

机构：

[1] Univ Strasbourg, Federat Med Translat Strasbourg, Inst Genet Med Alsace, Lab Genet Med,INSERM,U1112, Strasbourg, France

[2] Hop Univ Strasbourg, Serv Genet Med, Strasbourg, France

[3] Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France

[4] CHRU Lille, Hop Roger Salengro, Serv Explorat Vis & Neuroophtalmol, Lille, France

[5] Guys Hosp, Dept Clin Genet, London, England

[6] CHRU Lille, Hop Jeanne de Flandre, Serv Genet Clin, Lille, France

来源：

FRONTIERS IN GENETICS | 2019年 / 10卷

关键词：

Bardet-Biedl syndrome; IFT27; gene; BBS19; ciliopathy; whole exome sequencing; RETINAL DEGENERATION; ALIGNMENT;

D O I：

10.3389/fgene.2019.00021

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septa) defect) mutated in IFT27/BBS19. IFT27 is part of the Intraflagellar transport (IF), a bidirectional mechanism allowing the protein motility within the cilia. Using whole exome sequencing, two compound heterozygous mutations were found in the proband (NM_006860.4:c 4104A > G];[349+1G > T], p.[Tyr35Cys];(?) consistent with the expected autosomal recessive inheritance mode. These two mutations have already been reported but independently in other families and lacking either familial segregation or functional validation. This is the third report of IFT27 mutations in BBS patients confirming IFT27 as a BBS gene (BBS19). Mutations in IFT genes (IFT27, IFT172 and IFT74) confirm the IFT-pathway as a pathomechanism for BBS.

引用

页数：6

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