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J Hum Genet. 2019 Mar;64(3):249-252. doi: 10.1038/s10038-018-0540-x. Epub 2018 Nov 30.

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.

Zhang W1,2, Li D1,2, Wei S1,2, Guo T1, Wang J1, Luo H1, Yang Y1,2, Tan Z3,4.

Author information

1
Clinical Center for Gene Diagnosis and Therapy, Changsha, China.
2
Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.
3
Clinical Center for Gene Diagnosis and Therapy, Changsha, China. zhipingtan@csu.edu.cn.
4
Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China. zhipingtan@csu.edu.cn.

Abstract

We identified a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. This stopgain mutation was predicted to be disease causing by bioinformatics program (MutationTaster) and was also not presented in the current Genome Aggregation Database (gnomAD), Exome Aggregation Consortium (ExAC), Single Nucleotide Polymorphism Database (dbSNP), or National Heart, Lung, and Blood Institute (NHLBI) and Exome Sequencing Project (ESP). In addition, to the best of our knowledge, the present study was the first to report a CCDC151 mutation in primary ciliary dyskinesia patients with situs inversus in mainland China. In conclusion, our finding expands the spectrum of CCDC151 mutations, and more importantly our study provides additional support that CCDC151 plays important roles in left-right patterning and ciliary function.

PMID:
30504913
DOI:
10.1038/s10038-018-0540-x
[Indexed for MEDLINE]

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