Table 1 Summary of clinical information from each proband.

	Proband 1	Proband 2	Proband 3	Proband 4	Proband 5	Proband 6
Human variant	Y336*	Q147Gfs*82	T319Nfs*5	N94Rfs*47	R295P	E306K
Inheritance pattern	De novo	Autosomal dominant^a	De novo	Autosomal dominant^a	De novo	De novo
Age of onset (y/o)	1 month	0	3	0	0	2 months
Current age (y/o)	32	17	8	15 months	11	12
Sex	Male	Female	Male	Male	Male	Female
Intellectual disability	+	−	+	NA	+	−	3/5
Developmental delay	+	+	+	+	−	+	5/6
Seizures	+	−	+^b	+	+^c	−	4/6
Neurological abnormalities	+	+	+	+	+	+	6/6
Visual disorders	+	+	−	+	−	+	4/6
Hearing disorders	+	+	−	−	+	−	3/6
Craniofacial abnormalities	+	+	−	+	+	+	5/6
Palate abnormalities	+	+	−	−	−	+	3/6
Vertebral abnormalities	+	+	+	−	+	+	5/6
Scoliosis	+	−	−	−	+	+	3/6
Toe abnormalities	+	+	−	−	−	+	3/6
Connective tissue abnormalities	+	−	−	−	+	+	3/6
Cardiac abnormalities	+	+	−	−	+	−	3/6
Aortic dilation	+	−	−	−	+	−	2/6

Detailed reports can be found in the Supplemental materials. Proband 2 inherited the variant from her mother who has a milder phenotypic presentation.
^aProband 4 inherited his variant from his father, the father did not report any shared phenotypes. It is not known if the mother of proband 2 or father of proband 4 is mosaic.
^bFor proband 3 absence seizures were also reported in a sister who did not carry a variant in GDF11.
^cFor proband 5 seizures are likely due to Aicardi–Goutières type 6.

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