Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1765T>C	p.Tyr589His	Exon 14	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 6	Mutation segregates with the disease

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus	Index case: stillborn. 3/3 mutation found. Terminated pregnancies	Senat et al. (2001)

Year	Author	Title	Journal	Volume	Pages	Weblink
2001	Senat et al.	Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases	Prenat Diagn	21(13)	1129-1132	11787037