Table 1 Summary of phenotypic features in patients with KCNQ1 mutations p.(Arg116Leu) or p.(Pro369Leu) and pituitary hormone deficiencies

Subject	KCNQ1 mutation	Sex	QTc interval in ECG (ms)	Height (SDS) at the age of the onset of GH therapy	Brain MRI	Pituitary hormone deficiencies	Mutation inherited/ gingival fibromatosis	Craniofacial phenotype as a child
#5	p.R116L	F	414	−4.5 at 15 years	Normal	Growth hormone and gonadotropin	Maternally/Yes	NA
#6	p.R116L	F	412	−3.4 at 12.4 years	Normal	Growth hormone and gonadotropin	Maternally/Yes	NA
#7	p.R116L	M	391	−5.0 at 8.5 years	Small hypophysis	Growth hormone, gonadotropin, ACTH, and thyrotropin	Maternally/Yes	Yes
#13	p.R116L	F	NA	−2.7 at 4.5 years	Normal	Growth hormone	Paternally/No	No
#13b	p.R116L	F	NA	−2.7 at 3.7 years	Normal	Growth hormone and thyrotropin	Paternally/No	No
#8	p.R116L	M	398	−2.6 at 15.9 years	NA	Growth hormone and gonadotropin	Maternally/Yes	Yes
#9	p.R116L	F	NA	−2.7 at 9 years	NA	Growth hormone, gonadotropin	Maternally/Yes	Yes
#15	p.R116L	M	363^a	−1.8 at 6 years	Small hypophysis with thin stalk	Growth hormone, gonadotropin	Maternally/Yes	Yes
#17	p.R116L	M	329^a	−2.2 at 5 years	Small hypophysis with thin stalk	Growth hormone, gonadotropin	Maternally/Yes	Yes
#18	p.R116L	F	463	−2.3 at 13.4 years	Normal	Growth hormone	Maternally/Yes	Yes
#20	p.P369L	F	317^a	−5.2 at 17 years	Normal	Growth hormone, gonadotropin, ACTH and thyrotropin	NA/No	No
#21	p.P369L	M	399	−3.0 at 2.7 years	Small hypophysis	Growth hormone	Maternally/Yes	Yes
#22	p.P369L	M	358^a	No GH therapy	NA	Growth hormone (no treatment)	Maternally/Yes	Yes
#25^b	p.P369L	F	349^a	NA	Normal	No treatment	De novo/Yes	NA

F female, MRI magnetic resonance imaging, M male, NA not available
^aQTc time less than the 2nd percentile for gender and age^10,11
^bShe has a de novo mutation. She has refused endocrine testing. Her two daughters have GF and craniofacial phenotype, and one of them also has microhypophysis and GH deficiency diagnosed at 5 years of age

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