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

ConclusionWe speculate that theDRC1 deletion is a recurrent or perhaps founder mutation in Asians. The simple PCR method could be a useful screening tool.

Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz ‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho Tags: ORIGINAL ARTICLE Source Type: research