The only demonstrable explanation for this patient's infertility was primary ciliarydyskinesia associated with KS.
2
Our results indicate that mutations in the TCTE3 gene are not a main cause of primary ciliarydyskinesia.
3
The estimated prevalence of primary ciliarydyskinesia in the UK South Asian population is 1:2265.
4
Rationale: Primary ciliarydyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function.
5
Methods: Next-generation sequencing was used to screen 86 South Asian patients who had a clinical history consistent with primary ciliarydyskinesia.