Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.

Machteld M OudBrooke L LatourZeineb BakeyStef J LetteboerDorien LugtenbergKa Man WuElisabeth A M CornelissenHelger G YntemaMiriam SchmidtsRonald RoepmanErnie M H F Bongers

Published in: Cilia (2018)

By combining the clinical, genetic, and functional data from this study, we could conclude that the patient has SRTD9, also called Mainzer-Saldino syndrome, caused by variants in IFT140. We suggest the possibility that variants in IFT140 may underlie hearing impairment. Moreover, we show that urine provides an excellent source to obtain patient-derived cells in a non-invasive manner to study the pathogenicity of variants detected by genetic testing.

Keyphrases

copy number
case report
induced apoptosis
genome wide
dna methylation
signaling pathway
high throughput
cell cycle arrest
cell death
single cell
pseudomonas aeruginosa
hearing loss
endoplasmic reticulum stress