. 2016 Jun 29;59(2):118–125.

Table 5.

Summary of disease-causing mutations in 6 clinical cases

	Age, y	Gene	Mutation	References	Inheritance	Phenotype
F1	1	AHI1	E281X c.841 G > T	In house data, prediction of function	AR	Joubert syndrome
F1	1	AHI1	T702M c.2105 C > T	In house data, prediction of function	AR	Joubert syndrome
F2	2	FGFR3	N540K c.1620 C > A	13	AD	Hypochondroplasia
F3	4	NSD1	R2117X c.6349 C > T	14	AD	Sotos syndrome
F4	6	NSD1	T2055I c.6164 C > T	15	AD	Sotos syndrome
F5	31	WFS1	D797N c.2389 G > A	16	AD	Nonsyndromic hearing loss
F6	47	NF1	W2208X c.6623 G > A	17	AD	Neurofibromatosis-1

AD, autosomal dominant; AHI1, abelson helper integration site 1; AR, autosomal recessive; FGFR3, fibroblast growth factor receptor 3; NF1; neurofibromatosis type 1; NSD1, nuclear receptor binding SET domain protein 1; WFS1, wolframin ER transmembrane glycoprotein; y, year(s).