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Journal of Assisted Reproduction and Genetics

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01-02-2017 | Genetics

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Authors: Xuan Xu, Ping Gong, Jie Wen

Published in: Journal of Assisted Reproduction and Genetics | Issue 2/2017

Abstract

Purpose

Kartagener syndrome (KS), also known as visceral inversion-nasosinusitis-bronchiectasis syndrome, or familial bronchiectasis, is an autosomal recessive inherited disease. In this study, through two cases of KS, we aimed to assess the clinical and genetic characteristics of KS caused by DNAH5 mutations.

Methods

The two cases of KS from the same family underwent extensive clinical assessments, with next-generation DNA sequencing and bioinformatics analysis to identify pathogenic genes. In addition, Sanger sequencing was used to verify the pedigrees.

Results

The present study employed a directional capture strategy for hereditary disease screening, which correctly identified the virulence sites in the pedigree, and facilitated the differential diagnosis among multiple genes. Two novel mutations were detected in DNAH5: c.7778C>T (missense mutation) and c.13729G>A (nonsense mutation). They were not found in dbSNP, 1000 Genomes, and ExAC.

Conclusions

These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of KS, providing families with genetic counseling and prenatal diagnosis.

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Title: Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations
Authors: Xuan Xu
Ping Gong
Jie Wen
Publication date: 01-02-2017
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 2/2017
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-016-0849-3

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Springer Medicine

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Abstract

Purpose

Methods

Results

Conclusions

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Abstract

Purpose

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