Subsequently, an additional case with ID and with a number of other clinical features was referred to us from Dr. A.E. Chudley, Children’s Hospital, Winnipeg and Dr. Evica Rajcan-Separovic at Children’s and Women’s Health Centre of BC, Vancouver, BC. This family has a maternally inherited 112 kb deletion upstream of PTCHD1, including DDX53 and at least one exon of PTCHD1AS1 (chrX:22,819,116-22,931,588, hg18).
