Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.
PMID 32414360 | PMCID PMC7229615 | DOI 10.1186/s12890-020-1175-1 · BMC pulmonary medicine · 2020
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NEK10 | “Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary ciliary dyskinesia | “Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Tyr1134* | “Using whole exome sequencing we identified a homozygous truncating variant (c.3402 T > A); p.(Tyr1134*) in the NEK10 gene.” | 0.95 | hgvs_regex_v1 |