High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

ABSTRACT:

Rationale

Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian population is 1:2265. Early, accurate diagnosis is key to implementing appropriate management but clinical diagnostic tests can be equivocal.

Objectives

To determine the importance of genetic screening for primary ciliary dyskinesia in a UK South Asian population with a typical clinical phenotype, where standard testing is inconclusive.

Methods

Next-generation sequencing was used to screen 86 South Asian patients who had a clinical history consistent with primary ciliary dyski

SUBMITTER: Shoemark A 

PROVIDER: S-EPMC5771957 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature