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. 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
T702M c.2105 C > T
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).