Table 2.

Ciliary Investigations in Individuals DCP812, DCP813, and DCP856, in Whom DNAJB13 Mutations Were Identified

Family	Individual	NO (nL/min)a	Abnormal Ciliab(TEMc) (%)	Beating Cilia (%)	CBF (Hz)d	Angle (°)d	Distance Traveled (μm/s)d
DC387	DCP812	16.5	29	75	5 ± 1.5	72 ± 18	48.9 ± 13.7
DCP813	17.3	37	60	4.3 ± 1.5	69 ± 12	39.8 ± 20.3
DC416	DCP856	lowe	inconclusive	100	10.5 ± 0.5	–f	–f
–	controlsg (mean ± SD)	>100	–	91 ± 13	8.9 ± 2	71.6 ± 6.6	66.7 ± 14.2

Abbreviations are as follows: CBF, ciliary beating frequency; NO, nitric oxide; and TEM, transmission electron microscopy.

^aNasal NO was measured during apnea with the use of a chemoluminescence NO analyzer (NIOX Flex, Aerocrine, and Endono 8000, Seres). The mean value of the plateau was recorded. NO values above 100 nL/min were considered normal.

^bThe abnormalities include mainly cilia with a “9 + 0” pattern and some rare cilia with a “9 + 1” or “8 + 1” pattern.

^cThe method used is described in Tamalet et al.¹⁴

^dThe CBF, angle, and distance traveled were evaluated on beating cilia.

^eThe exact value is not available; the medical report mentions that the NO concentration is dramatically low, considering that a NO value below 100 nL/ml is low.

^fHigh-speed videomicroscopy was not performed.

^gAccording to Papon et al.⁵