Table 1.

Clinical characteristics of IGD patients without full CHARGE harboring pathogenic CHD7 mutations by zebrafish model

Pedigree No.	Sex	Origin	De novo	Diagnosis	Olfaction	Nucleotide change	Amino acid change	Exon/Intron	Mutations in other genes
11*	M	Caucasian	NA	KS	Self-reported anosmia	2819C > T	P940L	10	None
12	M	Caucasian	NA	nIGD	Self-reported normal	2819C > T	P940L	10	None
18*	M	Caucasian	No	KS	UPSIT hyposmia	4084T > C	F1362L	19	None
24	F	Caucasian	No	KS	UPSIT anosmia	5533G > A	G1845R	26	FGFR1: 710G > A (G237D)
25	M	Asian	NA	nIGD	Self-reported normal	5689G > A	E1897K	29	GNRHR: 836G > A (C279Y) homozygote
28	M	Caucasian	NA	KS	Self-reported anosmia	5945G > A	G1982E	30	None
32	M	African American	NA	KS	UPSIT hyposmia	6190A > G	I2064V	31	None
35	M	Asian	NA	nIGD, adult onset	UPSIT normal	6694A > G	I2232V	31	None
38	F	African American	NA	nIGD	Self-reported normal	7595C > T	T2532M	34	None
44	M	Caucasian	NA	KS	Self-reported anosmia	8405G > A/7861C > G	G2802E/Q2621E	38/36	None

F, female; M, male; NA, not assessed; UPSIT, University of Pennsylvania Smell Identification Test.

^*Probands with additional CHARGE features but not fulfilling Verloes CHARGE syndrome criteria.