Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.

Kozo MorimotoMinako HijikataMaimoona A ZariwalaKeith NykampAtsushi InabaTz-Chun GuoHiroyuki YamadaRebecca TrutyYuka SasakiKen OhtaShoji KudohMargaret W LeighMichael R KnowlesNaoto Keicho

Published in: Molecular genetics & genomic medicine (2019)

We speculate that the DRC1 deletion is a recurrent or perhaps founder mutation in Asians. The simple PCR method could be a useful screening tool.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
patient reported