Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.

Abstract:

BACKGROUND:Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing with the advancement of genetic and molecular testing. CASE PRESENTATION:Here in, we report two siblings with a classical clinical and radiological presentation of PCD. Using whole exome sequencing we identified a homozygous truncating variant (c.3402 T > A); p.(Tyr1134*) in the NEK10 gene. Western bolt analysis revealed a decrease in the expression of NEK10 protein in the patient cells. CONCLUSIONS:NEK10 plays a central role in the post-mitotic process of cilia assembly, regulating ciliary length and functions during physiological and pathological status. This study highlights the challenges of identifying disease-causing variants for a highly heterogeneous disorder and reports on the identification of a novel variant in NEK10 which recently associated with PCD.

journal_name

BMC Pulm Med

journal_title

BMC pulmonary medicine

authors

Al Mutairi F,Alkhalaf R,Alkhorayyef A,Alroqi F,Yusra A,Umair M,Nouf F,Khan A,Meshael A,Hamad A,Monira A,Asiri A,Alhamoudi KM,Alfadhel M

doi

10.1186/s12890-020-1175-1

subject

Has Abstract

pub_date

2020-05-15 00:00:00

pages

141

issue

1

issn

1471-2466

pii

10.1186/s12890-020-1175-1

journal_volume

20

pub_type

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