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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer Berlin Heidelberg

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DOI

10.1002/chin.199105128

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1432-1203

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Mutations in human Emphasis Type="Italic"IFT140

Authors: Mingchu Xu Lizhu Yang Feng Wang Huajin Li Xia Wang Weichen Wang Zhongqi Ge Keqing Wang Li Zhao Hui Li Yumei Li Ruifang Sui Rui Chen
Publish Date: 2015/07/28
Volume: 134, Issue: 10, Pages: 1069-1078
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Abstract

Leber congenital amaurosis LCA and retinitis pigmentosa RP are two genetically heterogeneous retinal degenerative disorders Despite the identification of a number of genes involved in LCA and RP the genetic etiology remains unknown in many patients In this study we aimed to identify novel diseasecausing genes of LCA and RP Retinal capture sequencing was initially performed to screen mutations in known diseasecausing genes in different cohorts of LCA and RP patients For patients with negative results we performed whole exome sequencing and applied a series of variant filtering strategies Sanger sequencing was done to validate candidate causative IFT140 variants Exome sequencing data analysis led to the identification of IFT140 variants in multiple unrelated nonsyndromic LCA and RP cases All the variants are extremely rare and predicted to be damaging All the variants passed Sanger validation and segregation tests provided that the family members’ DNA was available The results expand the phenotype spectrum of IFT140 mutations to nonsyndromic retinal degeneration thus extending our understanding of intraflagellar transport and primary cilia biology in the retina This work also improves the molecular diagnosis of retinal degenerative diseaseWe thank all the patients and their family members for participating in this study We thank the eyeGENE Working Group https//neinihgov/eyegene/staff eyegene The eyeGENE study was supported by the Department of Health and Human Services/National Institutes of Health/National Eye Institute intramural program under eyeGENE—Protocol 06EI0236 and 10EIN164 which has been funded in part under Contract No HHSN260200700001C We thank the Exome Aggregation Consortium and the groups that provided exome variant data We thank Mr Zachry T Soens Mr Jason S Salvo and Mr Evan M Jones for reviewing and editing the manuscript NGS was conducted at the Functional Genomic Core FGC facility at Baylor College of Medicine supported by NIH shared instrument grant 1S10RR026550 to R C This work was supported by grants from National Eye Institute R01EY022356 R01EY018571 Retinal Research Foundation Foundation Fighting Blindness BRGE06130618BCM to R C This study was also supported by grants from Foundation Fighting Blindness CDCL02140631PUMCH National Natural Science Foundation of China 81470669 and Beijing Natural Science Foundation 7152116 to R S M X is supported by Cullen Foundation endowment to the Molecular and Human Genetics Graduate Program Baylor College of Medicine F W is supported by a predoctoral fellowship funded by the Burroughs Wellcome Trust Fund The Houston Laboratory and Population Sciences Training Program in Gene Environment Interaction Z G is supported by NIH T32 funding 2T32EY00710221A1All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards

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